Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

Journal of Inherited Metabolic Disease

Volumn 31, Issue 2, 2008, Pages 194-204

  Koker S ^a   Sauer, S W ^a   Hoffmann, G F ^a   Muller I ^a   Morath, M A ^a   Okun, J G ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; 4 HYDROXYBUTYRIC ACID; AMINO ACID; ASPARTOACYLASE; CARNITINE; LITHIUM CHLORIDE; N ACETYLASPARTIC ACID; PARVOVIRUS VECTOR; PHENYLALANINE 4 MONOOXYGENASE; RECOMBINANT ASPARTOACYLASE; RECOMBINANT PROTEIN; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TETRAHYDROBIOPTERIN;

AMINO ACID METABOLISM; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD BRAIN BARRIER; BRAIN METABOLISM; CANAVAN DISEASE; CONFERENCE PAPER; DIET RESTRICTION; DRUG MECHANISM; ENERGY METABOLISM; FAMILIAL DISEASE; GENE MUTATION; GENE THERAPY; GLUTARIC ACIDURIA TYPE 1; HUMAN; INBORN ERROR OF METABOLISM; LONG TERM CARE; MASS SCREENING; METABOLIC TRANSPORT DISORDER; NEUROLOGIC DISEASE; NEUROTRANSMISSION; NEWBORN SCREENING; NONHUMAN; PATHOGENESIS; PHENYLKETONURIA; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; VIRAL GENE DELIVERY SYSTEM; VITAMIN SUPPLEMENTATION;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; ANIMALS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; ENERGY METABOLISM; HUMANS; PROGNOSIS;

EID: 43149090501     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0823-z     Document Type: Conference Paper

References (120)

1. BT Adornato JS O’Brien PW Lampert TF Roe HB Neustein 1972 Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins Neurology 22 202 210 4333033 1:STN:280:DyaE38%2FpsVajsw%3D%3D Adornato BT, O’Brien JS, Lampert PW, Roe TF, Neustein HB (1972) Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins. Neurology 22: 202–210.
2. LC Aiello P Wheeler 1995 The expensive tissue hypothesis: the brain and digestive system in human and primate evolution Curr Anthropol 36 199 221 Aiello LC, Wheeler P (1995) The expensive tissue hypothesis: the brain and digestive system in human and primate evolution. Curr Anthropol 36: 199–221.
3. MH Baslow 2000a Canavan’s spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease J Mol Neurosci 15 61 69 1:CAS:528:DC%2BD3MXht1Gqsb8%3D Baslow MH (2000a) Canavan’s spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease. J Mol Neurosci 15: 61–69.
4. MH Baslow 2000b Functions of N-acetyl-l-aspartate and N-acetyl-l-aspartylglutamate in the vertebrate brain: role in glial cell-specific sigaling J Neurochem 75 453 459 1:CAS:528:DC%2BD3cXltFCltr4%3D Baslow MH (2000b) Functions of N-acetyl-l-aspartate and N-acetyl-l-aspartylglutamate in the vertebrate brain: role in glial cell-specific sigaling. J Neurochem 75: 453–459.
5. MH Baslow 2002c Evidence supporting a role for N-acetyl-l-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytic review Neurochem Int 40 295 300 1:CAS:528:DC%2BD38XktVKqug%3D%3D Baslow MH (2002c) Evidence supporting a role for N-acetyl-l-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytic review. Neurochem Int 40: 295–300.
6. MH Baslow R Suckow V Sapirstein BL Hungrund 1999 Expression of aspartoacylase activity in cultured rat macroglial cells is limited to oligodendrocytes J Mol Neurosci 13 47 53 10691291 1:CAS:528:DC%2BD3cXhsVOrtr0%3D Baslow MH, Suckow R, Sapirstein V, Hungrund BL (1999) Expression of aspartoacylase activity in cultured rat macroglial cells is limited to oligodendrocytes. J Mol Neurosci 13: 47–53.
7. MJ Bennett N Marlow RJ Pollitt JK Wales 1986 Glutaric aciduria type 1: biochemical investigations and post mortem findings Eur J Pediatr 145 403 405 3792386 1:STN:280:DyaL2s%2FotVCmsg%3D%3D Bennett MJ, Marlow N, Pollitt RJ, Wales JK (1986) Glutaric aciduria type 1: biochemical investigations and post mortem findings. Eur J Pediatr 145: 403–405.
8. F Berton A Brancucci F Beghe 1999 Gamma-hydroxybutyrate inhibits excitatory postsynaptic potentials in rat hippocampal slices Eur J Pharmacol 380 109 116 10513569 1:CAS:528:DyaK1MXmvFejtbk%3D Berton F, Brancucci A, Beghe F, et al (1999) Gamma-hydroxybutyrate inhibits excitatory postsynaptic potentials in rat hippocampal slices. Eur J Pharmacol 380: 109–116.
9. U Bick G Fahrendorf AC Ludolph P Vassallo J Weglage K Ullrich 1991 Disturbed myelination in patients with untreated hyperphenylalaninemia: evaluation with magnetic resonance imaging Eur J Pediatr 150 185 189 2044589 1:STN:280:DyaK3M3lslSlsQ%3D%3D Bick U, Fahrendorf G, Ludolph AC, Vassallo P, Weglage J, Ullrich K (1991) Disturbed myelination in patients with untreated hyperphenylalaninemia: evaluation with magnetic resonance imaging. Eur J Pediatr 150: 185–189.
10. H Bickel J Gerrard EM Hickmans 1953 Influence of phenylalanine intake on phenylketonuria Lancet 265 812 813 13098090 1:CAS:528:DyaG2MXhslSitQ%3D%3D Bickel H, Gerrard J, Hickmans EM (1953) Influence of phenylalanine intake on phenylketonuria. Lancet 265: 812–813.
11. S Bluml A Moreno-Torres F Shic CH Nguy BD Ross 2002 Tricarboxylic acid cycle of glia in the in vivo human brain NMR Biomed 15 1 5 11840547 1:CAS:528:DC%2BD38XitlSgsbg%3D Bluml S, Moreno-Torres A, Shic F, Nguy CH, Ross BD (2002) Tricarboxylic acid cycle of glia in the in vivo human brain. NMR Biomed 15: 1–5.
12. AK Bouzier-Sore P Voisin P Canioni P Magistretti L Pellerin 2003 Lactate is a preferential oxidative energy substrate over glucose for neurons in culture J Cereb Blood Flow Metab 23 1298 1306 14600437 1:CAS:528:DC%2BD3sXos1CmtLY%3D Bouzier-Sore AK, Voisin P, Canioni P, Magistretti P, Pellerin L (2003) Lactate is a preferential oxidative energy substrate over glucose for neurons in culture. J Cereb Blood Flow Metab 23: 1298–1306.
13. JR Burnett 2007 Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH 4 for the treatment of phenylketonuria IDrugs 10 805 813 17968763 1:CAS:528:DC%2BD2sXhsVCgtLzM Burnett JR (2007) Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH 4 for the treatment of phenylketonuria. IDrugs 10: 805–813.
14. MM Canavan 1931 Schilder’s encephalitis perioxialis diffusa Neurology 15 299 308 Canavan MM (1931) Schilder’s encephalitis perioxialis diffusa. Neurology 15: 299–308.
15. JB Clark 1998 N-Acetyl aspartate: a marker for neuronal loss or mitochondrial dysfunction Dev Neurosci 20 271 276 9778562 1:CAS:528:DyaK1cXntl2lsLg%3D Clark JB (1998) N-Acetyl aspartate: a marker for neuronal loss or mitochondrial dysfunction. Dev Neurosci 20: 271–276.
16. GL Collingridge SJ Kehl H McLennan 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus J Physiol 334 33 46 6306230 1:CAS:528:DyaL38XmtV2itLw%3D Collingridge GL, Kehl SJ, McLennan H (1983) Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. J Physiol 334: 33–46.
17. AG Volder De A Bol J Blin 1997 Brain energy metabolism in early blind subjects: neural activity in the visual cortex Brain Res 750 235 244 9098549 De Volder AG, Bol A, Blin J, et al (1997) Brain energy metabolism in early blind subjects: neural activity in the visual cortex. Brain Res 750: 235–244.
18. EA Donarum DA Stephan K Larkin 2006 Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency J Inherit Metab Dis 29 143 156 16601881 1:CAS:528:DC%2BD28XjtlWgu78%3D Donarum EA, Stephan DA, Larkin K, et al (2006) Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 29: 143–156.
19. KR Drasbek J Christensen K Jensen 2006 Gamma-hydroxybutyrate–a drug of abuse Acta Neurol Scand 114 145 156 16911342 1:CAS:528:DC%2BD28XhtVGitLrL Drasbek KR, Christensen J, Jensen K (2006) Gamma-hydroxybutyrate–a drug of abuse. Acta Neurol Scand 114: 145–156.
20. CA Dyer A Kendler T Philibotte 1996 Evidence for central nervous system glial cell plasticity in phenylketonuria J Neuropath Exp Neurol 55 795 814 8965095 1:CAS:528:DyaK28XksFyru7w%3D 10.1097/00005072-199607000-00005 Dyer CA, Kendler A, Philibotte T, et al (1996) Evidence for central nervous system glial cell plasticity in phenylketonuria. J Neuropath Exp Neurol 55: 795–814.
21. M Erecinska F Dagani 1990 Relationships between the neuronal sodium/potassium pump and energy metabolism. Effects of K +, Na +, and adenosine triphosphate in isolated brain synaptosomes J Gen Physiol 95 591 616 2159972 1:STN:280:DyaK3c3ltVertw%3D%3D Erecinska M, Dagani F (1990) Relationships between the neuronal sodium/potassium pump and energy metabolism. Effects of K +, Na +, and adenosine triphosphate in isolated brain synaptosomes. J Gen Physiol 95: 591–616.
22. RC Erwald KR Keuren-Jensen van CD Aizenman HT Cline 2008 Roles of NR2A and NR2B in the development of dendritic arbor morphology in vivo J Neurosci 28 850 861 Erwald RC, van Keuren-Jensen KR, Aizenman CD, Cline HT (2008) Roles of NR2A and NR2B in the development of dendritic arbor morphology in vivo. J Neurosci 28: 850–861.
23. B Fiege N Blau 2007 Assessment of tetrahydrobiopterin (BH 4) responsiveness in phenylketonuria J Pediatr 15 627 630 Fiege B, Blau N (2007) Assessment of tetrahydrobiopterin (BH 4) responsiveness in phenylketonuria. J Pediatr 15: 627–630.
24. A Følling 1934 Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität Z Physiol Chem 227 169 176 Følling A (1934) Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. Z Physiol Chem 227: 169–176.
25. K Fox N Daw H Sato D Czepita 1991 Dark-rearing delays the loss of NMDA-receptor function in kitten visual cortex Nature 350 342 344 1672557 1:CAS:528:DyaK3MXisVWitro%3D Fox K, Daw N, Sato H, Czepita D (1991) Dark-rearing delays the loss of NMDA-receptor function in kitten visual cortex. Nature 350: 342–344.
26. CB Funk AN Prasad P Frosk 2005 Neuropathological, biochemical, and molecular findings in a glutaric acidemia type I cohort Brain 128 711 722 15689364 Funk CB, Prasad AN, Frosk P, et al (2005) Neuropathological, biochemical, and molecular findings in a glutaric acidemia type I cohort. Brain 128: 711–722.
27. BMF Galdikas JW Wood 1990 Birth sparing patterns in humans and apes Am J Phys Anthropol 83 185 191 2248378 1:STN:280:DyaK3M%2FmtlGluw%3D%3D Galdikas BMF, Wood JW (1990) Birth sparing patterns in humans and apes. Am J Phys Anthropol 83: 185–191.
28. RL George W Huang HA Naggar SB Smith V Ganapathy 2004 Transport of N-acetylasparate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse Biochim Biophys Acta 1690 63 69 15337171 1:CAS:528:DC%2BD2cXntFWqs70%3D George RL, Huang W, Naggar HA, Smith SB, Ganapathy V (2004) Transport of N-acetylasparate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse. Biochim Biophys Acta 1690: 63–69.
29. B Gerstner A Gratopp M Marcinkowski M Sifringer M Obladen C Bührer 2005 Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency Pediatr Res 57 771 776 15774829 1:CAS:528:DC%2BD2MXkt1aiurs%3D Gerstner B, Gratopp A, Marcinkowski M, Sifringer M, Obladen M, Bührer C (2005) Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency. Pediatr Res 57: 771–776.
30. KM Gibson DC DeVivo C Jakobs 1989 Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency Lancet 8671 1105 1106 Gibson KM, DeVivo DC, Jakobs C (1989) Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency. Lancet 8671: 1105–1106.
31. KM Gibson M Gupta PL Pearl 2003 Significant behavioural disturbances in succinic semialdehyde dehydrogense (SSADH) deficiency (gamma-hydroxybutyric aciduria) Biol Psychiatry 54 763 768 14512218 1:CAS:528:DC%2BD3sXnsVKltr4%3D Gibson KM, Gupta M, Pearl PL, et al (2003) Significant behavioural disturbances in succinic semialdehyde dehydrogense (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry 54: 763–768.
32. AV Glushakov DM Dennis C Sumners CN Seubert AE Martynyuk 2003 l-Phenylalanine selectively depresses currents at glutamatergic excitatory synapses J Neurosci Res 72 116 124 12645085 1:CAS:528:DC%2BD3sXivFClsLk%3D Glushakov AV, Dennis DM, Sumners C, Seubert CN, Martynyuk AE (2003) l-Phenylalanine selectively depresses currents atglutamatergic excitatory synapses. J Neurosci Res 72: 116–124.
33. AV Glushakov O Glushakova M Varshney 2005 Long-term changes in glutamatergic synaptic transmission in phenylketonuria Brain 128 300 307 15634735 1:STN:280:DC%2BD2M%2Fjs1Kmtw%3D%3D Glushakov AV, Glushakova O, Varshney M, et al (2005) Long-term changes in glutamatergic synaptic transmission in phenylketonuria. Brain 128: 300–307.
34. SI Goodman MD Norenberg RH Shikes DJ Breslich PG Moe 1977 Glutaric aciduria: biochemical and morphological considerations J Pediatr 90 746 750 856963 1:CAS:528:DyaE2sXhvVOitLw%3D Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria: biochemical and morphological considerations. J Pediatr 90: 746–750.
35. A Gropman 2003 Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase (SSADH) deficiency (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria) Eur J Paediatr Neurol 8 261 265 Gropman A (2003) Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase (SSADH) deficiency (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). Eur J Paediatr Neurol 8: 261–265.
36. M Gupta BM Hogema M Grompe 2003 Murine succinate semialdehyde dehydrogenase deficiency Ann Neurol 54 Supplement 6 S81 S90 12891658 1:CAS:528:DC%2BD3sXmslalu7Y%3D Gupta M, Hogema BM, Grompe M, et al (2003) Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol 54 (Supplement 6): S81–90.
37. R Guthrie A Susi 1963 A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 32 338 343 14063511 1:CAS:528:DyaF2cXltlKj Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32: 338–343.
38. B Hassel A Brathe D Petersen 2002 Cerebral dicarboxylate transport and metabolism studied with isotopically labelled fumarate, malate and malonate J Neurochem 82 410 419 12124442 1:CAS:528:DC%2BD38XlslKmt7o%3D Hassel B, Brathe A, Petersen D (2002) Cerebral dicarboxylate transport and metabolism studied with isotopically labelled fumarate, malate and malonate. J Neurochem 82: 410–419.
39. S Hasselbalch GM Knudsen PB Toft 1996 Cerebral glucose metabolism is decreased in white matter changes in patients with phenylketonuria Pediatr Res 40 21 24 8798240 1:STN:280:DyaK28zptFaltQ%3D%3D Hasselbalch S, Knudsen GM, Toft PB, et al (1996) Cerebral glucose metabolism is decreased in white matter changes in patients with phenylketonuria. Pediatr Res 40: 21–24.
40. R Heidenreich M Natowicz BE Hainline 1988 Acute extrapyramidal syndrome in methylmalonic acidemia: ‘Metabolic’ stroke involving the globus pallidus J Pediatr 113 1022 1027 3193307 1:STN:280:DyaL1M%2FlsFCquw%3D%3D Heidenreich R, Natowicz M, Hainline BE, et al (1988) Acute extrapyramidal syndrome in methylmalonic acidemia: ‘Metabolic’ stroke involving the globus pallidus. J Pediatr 113: 1022–1027.
41. MA Hofman 1983 Evolution of brain size in neonatal and adult placental mammals: a theoretical approach J Theoret Biol 105 317 322 1:STN:280:DyaL2c%2FptFKrsQ%3D%3D Hofman MA (1983) Evolution of brain size in neonatal and adult placental mammals: a theoretical approach. J Theoret Biol 105: 317–322.
42. GF Hoffmann S Athanassopoulos AB Burlina 1996 Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency Neuropediatrics 27 115 123 8837070 1:STN:280:DyaK28vjsVSqsw%3D%3D Hoffmann GF, Athanassopoulos S, Burlina AB, et al (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115–123.
43. BM Hogema M Gupta H Senephansiri 2001 Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase deficiency Nat Genet 29 212 216 11544478 1:CAS:528:DC%2BD3MXnsFKnsrw%3D Hogema BM, Gupta M, Senephansiri H, et al (2001) Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase deficiency. Nat Genet 29: 212–216.
44. F Hörster MA Schwab SW Sauer 2006 Phenylalanine reduces synaptic density in mixed cortical cultures from mice Pediatr Res 59 544 548 16549526 Hörster F, Schwab MA, Sauer SW, et al (2006) Phenylalanine reduces synaptic density in mixed cortical cultures from mice. Pediatr Res 59: 544–548.
45. PR Huttenlocher 2000 The neuropathology of phenylketonuria: human and animal studies Eur J Pediatr 159 S102 S106 11043154 Huttenlocher PR (2000) The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr 159: S102–S106.
46. C Ikonomidou F Bosch M Miksa 1999 Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain Science 283 70 74 9872743 1:CAS:528:DyaK1MXktFSitA%3D%3D Ikonomidou C, Bosch F, Miksa M, et al (1999) Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain. Science 283: 70–74.
47. C Jakobs M Bojasch E Mönch D Rating H Siemes F Hanefeld 1981 Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism Clin Chim Acta 111 169 178 7226548 1:CAS:528:DyaL3MXhslans7k%3D Jakobs C, Bojasch M, Mönch E, Rating D, Siemes H, Hanefeld F (1981) Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta 111: 169–178.
48. C Janson S McPhee L Bilaniuk 2002 Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain Hum Gene Ther 13 1391 1412 12162821 1:CAS:528:DC%2BD38XlvV2qt7s%3D Janson C, McPhee S, Bilaniuk L, et al (2002) Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Hum Gene Ther 13: 1391–1412.
49. CG Janson M Assadi J Francis L Bilaniuk D Shera P Leone 2005 Lithium citrate for Canavan disease Pediatr Neurol 33 235 244 16194720 Janson CG, Assadi M, Francis J, Bilaniuk L, Shera D, Leone P (2005) Lithium citrate for Canavan disease. Pediatr Neurol 33: 235–244.
50. I Knerr PL Pearl T Bottiglieri OC Snead C Jakobs KM Gibson 2007 Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 −/− mice and characterization of γ-hydroxybutyric acid pharmacology J Inherit Metab Dis 30 279 294 17457693 1:CAS:528:DC%2BD2sXmtVGitr8%3D Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM (2007) Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 −/− mice and characterization of γ-hydroxybutyric acid pharmacology. J Inherit Metab Dis 30: 279–294.
51. DM Koeller M Woontner LS Crnic 2002 Biochemical, pathological and behavorial analysis of a mouse model of glutaric acidemia type I Hum Mol Genet 11 347 357 11854167 1:CAS:528:DC%2BD38XitF2mtL0%3D Koeller DM, Woontner M, Crnic LS, et al (2002) Biochemical, pathological and behavorial analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 11: 347–357.
52. S Kölker GF Hoffmann DS Schor 2003 Glutaryl-CoA dehydrogenase deficiency: regional-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen Neuropediatrics 34 253 260 14598231 Kölker S, Hoffmann GF, Schor DS, et al (2003) Glutaryl-CoA dehydrogenase deficiency: regional-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 34: 253–260.
53. S Kölker DM Koeller JG Okun GF Hoffmann 2004 Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency Ann Neurol 55 7 12 14705106 Kölker S, Koeller DM, Okun JG, Hoffmann GF (2004) Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 55: 7–12.
54. S Kölker SW Sauer RA Surtees JV Leonard 2006a The aetiology of neurological complications of organic acidemias–a role for the blood–brain barrier J Inherit Metab Dis 29 701 704 Kölker S, Sauer SW, Surtees RA, Leonard JV (2006a) The aetiology of neurological complications of organic acidemias–a role for the blood–brain barrier. J Inherit Metab Dis 29: 701–704.
55. S Kölker SF Garbade CR Greenberg 2006b Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency Pediatr Res 59 840 847 Kölker S, Garbade SF, Greenberg CR, et al (2006b) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59: 840–847.
56. S Kölker SF Garbade N Boy 2007 Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by neonatal screening in Germany Pediatr Res 62 357 362 17622945 Kölker S, Garbade SF, Boy N, et al (2007) Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by neonatal screening in Germany. Pediatr Res 62: 357–362.
57. S Külkens S Sauer 2005 Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency Neurology 64 2142 2144 15985591 Külkens S, Harting, Sauer S, et al (2005) Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 64: 2142–2144.
58. RL Leibel VE Shih SI Goodman 1980 Glutaric aciduria type I: a metabolic disorder causing progressive choreoathetosis Neurology 30 1163 1168 6775244 1:STN:280:DyaL3M%2FjtFaitg%3D%3D Leibel RL, Shih VE, Goodman SI, et al (1980) Glutaric aciduria type I: a metabolic disorder causing progressive choreoathetosis. Neurology 30: 1163–1168.
59. JV Leonard JH Walter PJ McKiernan 2001 The management of organic acidaemias: the role of transplantation J Inherit Metab Dis 24 309 311 11405351 1:STN:280:DC%2BD38%2FhtlSqsg%3D%3D Leonard JV, Walter JH, McKiernan PJ (2001) The management of organic acidaemias: the role of transplantation. J Inherit Metab Dis 24: 309–311.
60. WR Leonard ML Robertson 1992 Nutritional requirements and human evolution: a bioenergetical model Am J Hum Biol 4 179 195 Leonard WR, Robertson ML (1992) Nutritional requirements and human evolution: a bioenergetics model. Am J Hum Biol 4: 179–195.
61. K Lingenhoehl R Brom J Heid 1999 Gamma-hydroxybutyrate is a weak agonist at recombinant GABA(B) receptors Neuropharmacology 38 1667 1673 10587082 1:CAS:528:DyaK1MXmtVGmtb8%3D Lingenhoehl K, Brom R, Heid J, et al (1999) Gamma-hydroxybutyrate is a weak agonist at recombinant GABA(B) receptors. Neuropharmacology 38: 1667–1673.
62. CN Madhavarao P Arun JR Moffett 2005 Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan’s disease Proc Natl Acad Sci U S A 102 5221 5226 15784740 1:CAS:528:DC%2BD2MXjsFemtbc%3D Madhavarao CN, Arun P, Moffett JR, et al (2005) Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan’s disease. Proc Natl Acad Sci U S A 102: 5221–5226.
63. PJ Magistretti L Pellerin DL Rothman RG Shulman 1999 Energy on demand Science 283 496 497 9988650 1:CAS:528:DyaK1MXoslagsw%3D%3D Magistretti PJ, Pellerin L, Rothman DL, Shulman RG (1999) Energy on demand. Science 283: 496–497.
64. E Martin A Capone J Schneider J Hennig T Thiel 2001 Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy Ann Neurol 49 518 521 11310630 1:CAS:528:DC%2BD3MXjtVyjtLo%3D Martin E, Capone A, Schneider J, Hennig J, Thiel T (2001) Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy. Ann Neurol 49: 518–521.
65. R Matalon K Michals D Sebesta M Deanching P Gashkoff J Casanova 1988 Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease Am J Med Genet 29 463 471 3354621 1:STN:280:DyaL1c7otFSktw%3D%3D Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29: 463–471.
66. R Matalon S Surendran K Michals Matalon 2003 Future role of large neutral amino acids in transport of phenylalanine into the brain Pediatrics 112 1570 1574 14654667 Matalon R, Surendran S, Michals Matalon K, et al (2003) Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics 112: 1570–1574.
67. HP McAdams CA Geyer SL Done D Deigh M Mitchell VN Ghaed 1990 CT and MR imaging of Canavan disease Am J Neuroradiol 11 397 399 2107726 1:STN:280:DyaK3c7psFyltg%3D%3D McAdams HP, Geyer CA, Done SL, Deigh D, Mitchell M, Ghaed VN (1990) CT and MR imaging of Canavan disease. Am J Neuroradiol 11: 397–399.
68. CM McKean 1972 The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain Brain Res 47 469 476 4642573 1:CAS:528:DyaE3sXot1Kmug%3D%3D McKean CM (1972) The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain. Brain Res 47: 469–476.
69. SW McPhee CG Janson C Li 2006 Immune responses to AAV in a phase I study for Canavan disease J Gene Med 8 577 588 16532510 1:CAS:528:DC%2BD28XmtFKnsr4%3D McPhee SW, Janson CG, Li C, et al (2006) Immune responses to AAV in a phase I study for Canavan disease. J Gene Med 8: 577–588.
70. KJ Meador 2007 The basic science of memory as it applies to epilepsy Epilepsia 48 Supplement 9 23 25 18047596 Meador KJ (2007) The basic science of memory as it applies to epilepsy. Epilepsia 48 (Supplement 9): 23–25.
71. SL Miller Y Daikhin M Yudkoff 1996 Metabolism of N-acetyl-l-aspartate in rat brain Neurochem Res 21 615 618 8726971 1:CAS:528:DyaK28XjtVSgs74%3D Miller SL, Daikhin Y, Yudkoff M (1996) Metabolism of N-acetyl-l-aspartate in rat brain. Neurochem Res 21: 615–618.
72. JR Moffett B Ross P Arun CN Madhavarao AA Namboodiri 2007 N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology Prog Neurobiol 81 89 131 17275978 1:CAS:528:DC%2BD2sXitFOrsLw%3D Moffett JR, Ross B, Arun P, Madhavarao CN, Namboodiri AA (2007) N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology. Prog Neurobiol 81: 89–131.
73. HE Möller J Weglage D Wiedermann K Ullrich 1998 Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria J Cereb Blood Flow Metab 18 1184 1191 9809507 Möller HE, Weglage J, Wiedermann D, Ullrich K (1998) Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria. J Cereb Blood Flow Metab 18: 1184–1191.
74. A Moreno BD Ross S Bluml 2001 Direct determination of the N-acetyl-l-aspartate synthesis rate in the human brain by 13 C MRS and [1-13 C]glucose infusion J Neurochem 77 347 350 11279290 1:CAS:528:DC%2BD3MXis1Klur4%3D 10.1046/j.1471-4159.2001.t01-1-00282.x Moreno A, Ross BD, Bluml S (2001) Direct determination of the N-acetyl-l-aspartate synthesis rate in the human brain by 13 C MRS and [1-13 C]glucose infusion. J Neurochem 77: 347–350.
75. C Mühlhausen N Ott F Chalajour 2006 Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I Pediatr Res 59 196 202 16439578 Mühlhausen C, Ott N, Chalajour F, et al (2006) Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I. Pediatr Res 59: 196–202.
76. AC Muntau W Röschinger M Habich 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria N Engl J Med 347 2122 2132 12501224 1:CAS:528:DC%2BD3sXhslGq Muntau AC, Röschinger W, Habich M, et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347: 2122–2132.
77. P Nikolaides J Leonard R Surtees 1998 Neurological outcome of methylmalonic acidemia Arch Dis Child 78 508 512 Nikolaides P, Leonard J, Surtees R (1998) Neurological outcome of methylmalonic acidemia. Arch Dis Child 78: 508–512.
78. JG Okun F Hörster LM Farkas 2002 Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity J Biol Chem 277 14674 14680 11847233 1:CAS:528:DC%2BD38XjslSgs70%3D Okun JG, Hörster F, Farkas LM, et al (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277: 14674–14680.
79. RS Paine 1957 The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria) Pediatrics 20 290 302 13452670 1:STN:280:DyaG2s%2FpvFCntw%3D%3D Paine RS (1957) The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria). Pediatrics 20: 290–302.
80. WM Pardridge 1998 Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids Neurochem Res 23 635 644 9566601 1:CAS:528:DyaK1cXisV2rsLs%3D Pardridge WM (1998) Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids. Neurochem Res 23: 635–644.
81. V Pawlak BJ Schupp FN Single PH Seeburg G Köhr 2005 Impaired synaptic scaling in mouse hippocampal neurones expressing NMDA receptors with reduced calcium permeability J Physiol 562 771 783 15576450 1:CAS:528:DC%2BD2MXht1Cgsro%3D Pawlak V, Schupp BJ, Single FN, Seeburg PH, Köhr G (2005) Impaired synaptic scaling in mouse hippocampal neurones expressing NMDA receptors with reduced calcium permeability. J Physiol 562: 771–783.
82. PL Pearl KM Gibson MT Acosta 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency Neurology 60 1413 1417 12743223 1:CAS:528:DC%2BD3sXjtVOhurs%3D Pearl PL, Gibson KM, Acosta MT, et al (2003) Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 60: 1413–1417.
83. Y Persidsky SH Ramirez J Haorah GD Kanmogne 2006 Blood-brain barrier: structural components and function under physiologic and pathophysiologic conditions J Neuroimmune Pharmacol 1 223 236 18040800 Persidsky Y, Ramirez SH, Haorah J, Kanmogne GD (2006) Blood-brain barrier: structural components and function under physiologic and pathophysiologic conditions. J Neuroimmune Pharmacol 1: 223–236.
84. J Pietz R Kreis A Rupp 1999 Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria J Clin Invest 103 1169 1178 10207169 1:CAS:528:DyaK1MXis1Gnsbs%3D Pietz J, Kreis R, Rupp A, et al (1999) Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 103: 1169–1178.
85. LO Porciuncula A Dal-Pizzol Jr AS Coitinho T Emanuelli DO Souza M Wajner 2000 Inhibition of synaptosomal [ 3 H]glutamate uptake and [ 3 H]glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro J Neurol Sci 73 93 96 Porciuncula LO, Dal-Pizzol A Jr, Coitinho AS, Emanuelli T, Souza DO, Wajner M (2000) Inhibition of synaptosomal [ 3 H]glutamate uptake and [ 3 H]glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro. J Neurol Sci 73: 93–96.
86. M Quin CB Smith 2007 Regionally selective decreases in cerebral glucose metabolism in a mouse model of phenylketonuria J Inherit Metab Dis 30 318 325 Quin M, Smith CB (2007) Regionally selective decreases in cerebral glucose metabolism in a mouse model of phenylketonuria. J Inherit Metab Dis 30: 318–325.
87. ME Raichle AM MacLeod AZ Snyder WJ Powers DA Gusnard GL Shulman 2001 A default mode in brain function Proc Natl Acad Sci U S A 98 676 682 11209064 1:CAS:528:DC%2BD3MXnslKmtw%3D%3D Raichle ME, MacLeod AM, Snyder AZ, Powers WJ, Gusnard DA, Shulman GL (2001) A default mode in brain function. Proc Natl Acad Sci U S A 98: 676–682.
88. X Ren I Mody 2003 Gamma-hydroxybutyrate reduces mitogen-activated protein kinase phosphorylation via GABA B receptor activation in mouse frontal cortex and hippocampus J Biol Chem 278 42006 42011 12923192 1:CAS:528:DC%2BD3sXot1amt7w%3D Ren X, Mody I (2003) Gamma-hydroxybutyrate reduces mitogen-activated protein kinase phosphorylation via GABA B receptor activation in mouse frontal cortex and hippocampus. J Biol Chem 278: 42006–42011.
89. LM Rowland RS Astur RE Jung 2005 Selective cognitive impairments associated with NMDA receptor blockade in humans Neuropsychopharmacology 30 633 639 15647751 1:CAS:528:DC%2BD2MXhtlOrtL4%3D Rowland LM, Astur RS, Jung RE, et al (2005) Selective cognitive impairments associated with NMDA receptor blockade in humans. Neuropsychopharmacology 30: 633–639.
90. CS Roy CS Sherrington 1890 On the regulation of the blood supply of the brain J Physiol (London) 11 85 108 1:STN:280:DC%2BD2s%2FntV2isg%3D%3D Roy CS, Sherrington CS (1890) On the regulation of the blood supply of the brain. J Physiol (London) 11: 85–108.
91. SW Sauer MA Schwab 2005 Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency, a role for glutaryl-coenzyme A J Biol Chem 280 21830 21836 15840571 1:CAS:528:DC%2BD2MXksl2iu7c%3D Sauer SW, Okun, Schwab MA, et al (2005) Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency, a role for glutaryl-coenzyme A. J Biol Chem 280: 21830–21836.
92. SW Sauer JG Okun G Fricker 2006 Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency J Neurochem 97 899 910 16573641 1:CAS:528:DC%2BD28XkslCjsLs%3D Sauer SW, Okun JG, Fricker G, et al. (2006) Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 97: 899–910.
93. A Schousboe N Westergaard U Sonnewald 1993 Glutamate and glutamine metabolism and compartmentation in astrocytes Dev Neurosci 15 359 366 7805590 1:CAS:528:DyaK2cXmt1ajtbs%3D Schousboe A, Westergaard N, Sonnewald U, et al (1993) Glutamate and glutamine metabolism and compartmentation in astrocytes. Dev Neurosci 15: 359–366.
94. A Schousboe N Westergaard HS Waagepetersen OM Larsson IJ Barken U Sonnewald 1997 Trafficking between glia and neurons of TCA cycle intermediates and related metabolites Glia 21 99 105 9298852 1:STN:280:DyaK2svkt1ejsQ%3D%3D Schousboe A, Westergaard N, Waagepetersen HS, Larsson OM, Barken IJ, Sonnewald U (1997) Trafficking between glia and neurons of TCA cycle intermediates and related metabolites. Glia 21: 99–105.
95. MA Schwab SW Sauer JG Okun 2006 Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins Biochem J 398 107 112 16686602 1:CAS:528:DC%2BD28XnsFWqt7w%3D Schwab MA, Sauer SW, Okun JG, et al (2006) Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J 398: 107–112.
96. S Shefer GS Tint D Jean-Guillaume 2000 Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and forebrain pathology in the PKU mouse? J Neurosci Res 61 549 563 10956425 1:CAS:528:DC%2BD3cXmsFGqur8%3D Shefer S, Tint GS, Jean-Guillaume D, et al (2000) Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and forebrain pathology in the PKU mouse? J Neurosci Res 61: 549–563.
97. CC Sherwood CD Stimpson MA Raghanti 2006 From the cover: evolution of increased glia-neuron ratios in the human frontal cortex Proc Natl Acad Sci USA 103 13606 13611 16938869 1:CAS:528:DC%2BD28XpvFSmsbk%3D Sherwood CC, Stimpson CD, Raghanti MA, et al (2006) From the cover: evolution of increased glia-neuron ratios in the human frontal cortex. Proc Natl Acad Sci USA 103: 13606–13611.
98. CB Smith GE Deibler N Eng K Schmidt L Sokoloff 1988 Measurement of local cerebral protein synthesis in vivo: influence of amino acids derived from protein degradation Proc Natl Acad Sci U S A 85 9341 9345 3057507 1:CAS:528:DyaL1MXjslSmug%3D%3D Smith CB, Deibler GE, Eng N, Schmidt K, Sokoloff L (1988) Measurement of local cerebral protein synthesis in vivo: influence of amino acids derived from protein degradation. Proc Natl Acad Sci U S A 85: 9341–9345.
99. OC Snead KM Gibson 2005 γ-Hydroxybutyric acid N Engl J Med 352 2721 2732 15987921 1:CAS:528:DC%2BD2MXls1SktLc%3D Snead OC, Gibson KM (2005) γ-Hydroxybutyric acid. N Engl J Med 352: 2721–2732.
100. L Sokoloff 1980 The metabolism of the central nervous system in vivo J Field HW Magoun VE Hall Handbook of Physiology, Sect 1, Vol II Raven Press New York 161 168 Sokoloff L (1960) The metabolism of the central nervous system in vivo. In: Field J, Magoun HW, Hall VE, eds. Handbook of Physiology, Sect 1, Vol II. New York: Raven Press, 161–168.
101. L Sokoloff 1991 Measurement of local cerebral glucose utilization and its relation to local functional activity in the brain Adv Exp Med Biol 291 21 42 1927683 1:CAS:528:DyaK38XlsVOlug%3D%3D Sokoloff L (1991) Measurement of local cerebral glucose utilization and its relation to local functional activity in the brain. Adv Exp Med Biol 291: 21–42.
102. F Stellmer B Keyser BC Burckardt 2007 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3 J Mol Med 85 763 770 17356845 1:CAS:528:DC%2BD2sXns1yntLY%3D Stellmer F, Keyser B, Burckardt BC, et al (2007) 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3. J Mol Med 85: 763–770.
103. O Stokke SI Goodman PG Moe 1976 Inhibiton of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria? Clin Chim Acta 66 411 415 1248144 1:CAS:528:DyaE28XhtVegurk%3D Stokke O, Goodman SI, Moe PG (1976) Inhibiton of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria? Clin Chim Acta 66: 411–415.
104. KA Strauss EG Puffenberger DL Robinson DH Morton 2003 Type I glutaric aciduria, part 1: natural history of 77 patients Am J Med Genet C Semin Med Genet 121 38 52 12888985 Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet 121: 38–52.
105. KA Strauss GV Mazariegos R Sindhi 2006 Elective liver transplantation of classical maple syrup urine disease Am J Transplant 6 557 564 16468966 1:CAS:528:DC%2BD28Xit12gt7s%3D Strauss KA, Mazariegos GV, Sindhi R, et al (2006) Elective liver transplantation of classical maple syrup urine disease. Am J Transplant 6: 557–564.
106. KA Strauss J Lazovic M Wintermark DH Morton 2007 Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency Brain 130 1905 1920 17478444 Strauss KA, Lazovic J, Wintermark M, Morton DH (2007) Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain 130: 1905–1920.
107. RA Surtees EE Matthews JV Leonard 1992 Neurologic outcome of propionic acidemia Pediatr Neurol 8 333 337 1418175 1:STN:280:DyaK3s%2FjvFSqug%3D%3D Surtees RA, Matthews EE, Leonard JV (1992) Neurologic outcome of propionic acidemia. Pediatr Neurol 8: 333–337.
108. AJ Thompson S Tillotson I Smith B Kendall SG Moore DP Brenton 1993 Brain MRI changes in phenylketonuria. Associations with the dietary status Brain 116 811 821 8353710 Thompson AJ, Tillotson S, Smith I, Kendall B, Moore SG, Brenton DP (1993) Brain MRI changes in phenylketonuria. Associations with the dietary status. Brain 116: 811–821.
109. FK Trefz K Cipcic-Schmidt R Koch 2000 Final intelligence in late treated patients with phenylketonuria Eur J Pediatr 159 Supplement 2 S145 S148 11043161 Trefz FK, Cipcic-Schmidt K, Koch R (2000) Final intelligence in late treated patients with phenylketonuria. Eur J Pediatr 159 (Supplement 2): S145–S148.
110. FK Trefz D Scheible G Frauendienst-Egger H Korall N Blau 2005 Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin Mol Genet Metab 86 Supplement 1 S75 S80 16242984 1:CAS:528:DC%2BD2MXhtlSjtrnM Trefz FK, Scheible D, Frauendienst-Egger G, Korall H, Blau N (2005) Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab 86 (Supplement 1): S75–S80.
111. H Tsukada S Nishiyama D Fukumoto K Sato T Kakiuchi EF Domino 2005 Chronic NMDA antagonism impairs working memory, decreases extracellular dopamine, and increases D1 receptor binding in prefrontal cortex of conscious monkeys Neuropsychopharmacology 30 1861 1869 15841110 1:CAS:528:DC%2BD2MXhtVSls7nO Tsukada H, Nishiyama S, Fukumoto D, Sato K, Kakiuchi T, Domino EF (2005) Chronic NMDA antagonism impairs working memory, decreases extracellular dopamine, and increases D1 receptor binding in prefrontal cortex of conscious monkeys. Neuropsychopharmacology 30: 1861–1869.
112. K Ullrich B Flott-Rahmel P Schluff 1999 Glutaric aciduria type I: pathomechanisms of neurodegeneration J Inherit Metab Dis 22 392 403 10407776 1:CAS:528:DyaK1MXkslOmt7g%3D Ullrich K, Flott-Rahmel B, Schluff P, et al (1999) Glutaric aciduria type I: pathomechanisms of neurodegeneration. J Inherit Metab Dis 22: 392–403.
113. L Bogaert Van I Bertrand 1949 Sur une idiotie familiale avec degerescence sponglieuse de neuraxe (note preliminaire) Acta Neurol 49 572 587 Van Bogaert L, Bertrand I (1949) Sur une idiotie familiale avec degerescence sponglieuse de neuraxe (note preliminaire). Acta Neurol 49: 572–587.
114. G Weber 1969 Inhibition of human brain pyruvate kinase and hexokinase by phenylalanine and phenylpyruvate: possible relevance to phenylketonuric brain damage Proc Natl Acad Sci U S A 63 1365 1369 5260939 1:CAS:528:DyaE3cXktVyhtA%3D%3D Weber G (1969) Inhibition of human brain pyruvate kinase and hexokinase by phenylalanine and phenylpyruvate: possible relevance to phenylketonuric brain damage. Proc Natl Acad Sci U S A 63: 1365–1369.
115. J Weglage D Wiedermann J Denecke 2002 Individual blood brain–barrier phenylalanine transport in siblings with classical phenylketonuria J Inherit Metab Dis 25 431 436 12555936 1:CAS:528:DC%2BD38XptFejsbY%3D Weglage J, Wiedermann D, Denecke J, et al (2002) Individual blood brain–barrier phenylalanine transport in siblings with classical phenylketonuria. J Inherit Metab Dis 25: 431–436.
116. Wu Y, Buzzi A, Shen L, et al (2004) Differential expression of AMPA-type glutamate receptors in the brain of mice deficient for succinate semialdehyde dehydrogenase. 34th Meeting of the Society for Neuroscience, San Diego, CA. Online ( http://sfn.scholarone.com/itin2004).
117. Y Wu A Buzzi M Frantseva 2006 Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABA A receptor-mediated mechanisms Ann Neurol 59 42 52 16240371 1:CAS:528:DC%2BD28Xpt1Sluw%3D%3D Wu Y, Buzzi A, Frantseva M, et al (2006) Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABA A receptor-mediated mechanisms. Ann Neurol 59: 42–52.
118. E Yodoya M Wada A Shimada 2006 Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary rat cultured cerebrocortical astrocytes and neurons J Neurochem 97 162 173 16524379 1:CAS:528:DC%2BD28XjslarsL0%3D Yodoya E, Wada M, Shimada A, et al (2006) Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary rat cultured cerebrocortical astrocytes and neurons. J Neurochem 97: 162–173.
119. WJ Zinnanti J Lazovic EB Wolpert 2006 A diet-induced mouse model for glutaric aciduria type I Brain 129 899 910 16446282 Zinnanti WJ, Lazovic J, Wolpert EB, et al (2006) A diet-induced mouse model for glutaric aciduria type I. Brain 129: 899–910.
120. WJ Zinnanti J Lazovic C Housman 2007 Mechanism of age-dependent susceptibility and novel treatment strategies in glutaric acidemia type I J Clin Invest 117 3258 3270 17932566 1:CAS:528:DC%2BD2sXht12isrrI Zinnanti WJ, Lazovic J, Housman C, et al (2007) Mechanism of age-dependent susceptibility and novel treatment strategies in glutaric acidemia type I. J Clin Invest 117: 3258–3270.