Metabolic Diseases of the Nervous System

Molecular Neurology

Volumn , Issue , 2007, Pages 149-161

  Pascual, Juan M ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 57649118224     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012369509-3.50012-3     Document Type: Chapter

References (51)

1. J. Abramson, S. Iwata and H.R. Kaback (2004) Lactose permease as a paradigm for membrane transport proteins. Mol Membr Biol. 21 227-236.
2. M.L. Batshaw, R.B. MacArthur and M. Tuchman (2001) Alternative path way therapy for urea cycle disorders: twenty years later. J Pediatr. 138 S46-S54.
3. N. Blau and H. Erlandsen (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 82 101-111.
4. N. Blau and C.R. Scriver (2004) New approaches to treat PKU: How far are we? Mol Genet Metab. 81 1-2.
5. R.O. Brady and R. Schiffmann (2004) Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol. 3 752-756.
6. D.H. Chace and T.A. Kalas (2005) A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem. 38 296-309.
7. J. Christodoulou and B. Wilcken (2004) Perimortem laboratory investigation of genetic metabolic disorders. Semin Neonatol. 9 275-280.
8. J. Christodoulou, D.M. Danks, B. Sarkar, K.E. Baerlocher, R. Casey, N. Horn, et al. (1998) Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients. Am J Med Genet. 76 154-164.
9. H.O. de Baulny, J.F. Benoist, O. Rigal, G. Touati, D. Rabier and J.M. Saudubray (2005) Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis. 28 415-423.
10. D.C. De Vivo, R.R. Trifiletti, R.I. Jacobson, G.M. Ronen, R.A. Behmand and S.I. Harik (1991) Defective glucose transport across the bloodbrain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 325 703-709.
11. G.L. Deliliers and C. Annaloro (2005) Hyperuricemia and bone marrow transplantation. Contrib Nephrol. 147 105-114.
12. M. Duran and S.K. Wadman (1985) Thiamine-responsive inborn errors of metabolism. J Inherit Metab Dis. 8 70-75.
13. H. Erlandsen and R.C. Stevens (1999) The structural basis of phenylketonuria. Mol Genet Metab 68 103-125.
14. H.H. Freeze and M. Aebi (2005) Altered glycan structures: The molecular basis of congenital disorders of glycosylation. Curr Opin Struct Biol. 15 490-498.
15. S.J. Hayflick (2003) Unraveling the Hallervorden-Spatz syndrome: Pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 15 572-577.
16. C. Heilig, F. Brosius, B. Siu, L. Concepcion, R. Mortensen, K. Heilig, et al. (2003) Implications of glucose transporter protein type 1 (GLUT1)haplodeficiency in embryonic stem cells for their survival in response to hypoxic stress. Am J Pathol. 163 1873-1885.
17. R.C. Hennekam (2005) Congenital brain anomalies in distal cholesterol biosynthesis defects. J Inherit Metab Dis. 28 385-392.
18. J.H. Hofmeyr and A. Cornish-Bowden (1991) Quantitative assessment of regulation in metabolic systems. Eur J Biochem. 200 223-236.
19. A.J. Hulbert and P.L. Else (2005) Membranes and the setting of energy demand. J Exp Biol. 208 1593-1599.
20. K. Hyland (2003) The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol. 54 S13-S17.
21. H. Ichinose, T. Suzuki, H. Inagaki, T. Ohye and T. Nagatsu (1999) Molecular genetics of dopa-responsive dystonia. Biol Chem. 380 1355-1364.
22. J. Jaeken and H. Carchon (2004) Congenital disorders of glycosylation: A booming chapter of pediatrics. Curr Opin Pediatr. 16 434-439.
23. P.J. Jensen, J.D. Gitlin and M.O. Carayannopoulos (2006) GLUT1 deficiency links nutrient availability and apoptosis during embryonic development. J Biol Chem. 281 13382-13387.
24. H.A. Jinnah, L. De Gregorio, J.C. Harris, W.L. Nyhan and J.P. O'Neill (2000) The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 463 309-326.
25. M.A. Johnson, Y.M. Kuo, S.K. Westaway, S.M. Parker, K.H. Ching, J. Gitschier and S.J. Hayflick (2004) Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann N Y Acad Sci. 1012 282-298.
26. B. Lee, H. Yu, F. Jahoor, W. O'Brien, A.L. Beaudet and P. Reeds (2000) In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proc Natl Acad Sci U S A 97 8021-8026.
27. J.V. Leonard and A.A. Morris (2002) Urea cycle disorders. Semin Neonatol. 7 27-35.
28. N.D. Leslie (2003) Insights into the pathogenesis of galactosemia. Annu Rev Nutr. 23 59-80.
29. W. Lissens, L. De Meirleir, S. Seneca, I. Liebaers, G.K. Brown, R.M. Brown, et al. (2000) Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat. 15 209-219.
30. M.C. Maj, N. MacKay, V. Levandovskiy, J. Addis, E.R. Baumgartner, M.R. Baumgartner, et al. (2005) Pyruvate dehydrogenase phosphatase deficiency: Identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 90 4101-4107.
31. M. Matsuo, R. Tasaki, H. Kodama and Y. Hamasaki (2005) Screening for Menkes disease using the urine HVA/VMA ratio. J Inherit Metab Dis. 28 89-93.
32. J.H. Menkes, M. Alter, G.K. Steigleder, D.R. Weakley and J.H. Sung (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29 764-779.
33. J.H. Menkes (1999) Menkes disease and Wilson disease: Two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol. 3 147-158.
34. F. Mochel, P. DeLonlay, G. Touati, H. Brunengraber, R.P. Kinman, D. Rabier, et al. (2005) Pyruvate carboxylase deficiency: Clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab. 84 305-312.
35. A. Nissenkorn, M. Michelson, B. Ben-Zeev and T. Lerman-Sagie (2001) Inborn errors of metabolism: A cause of abnormal brain development. Neurology 56 1265-1272.
36. W.L. Nyhan (1997) The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis. 20 171-178.
37. W.L. Nyhan, A. Khanna, B.A. Barshop, R.K. Naviaux, A.F. Precht, J.E. Lavine, et al. (2002) Pyruvate carboxylase deficiency—Insights from liver transplantation. Mol Genet Metab. 77 143-149.
38. H. Ogier de Baulny and J.M. Saudubray (2002) Branched-chain organic acidurias. Semin Neonatol. 7 65-74.
39. J.M. Opitz, E. Gilbert-Barness, J. Ackerman and A. Lowichik (2002) Cholesterol and development: The RSH (“Smith-Lemli-Opitz”) syndrome and related conditions. Pediatr Pathol Mol Med. 21 153-181.
40. J.M. Pascual, R.L. Van Heertum, D. Wang, K. Engelstad and D.C. De Vivo (2002) Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol. 52 458-464.
41. M.T. Pellecchia, E.M. Valente, L. Cif, S. Salvi, A. Albanese, V. Scarano, et al. (2005) The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology 64 1810-1812.
42. B.H. Robinson, N. MacKay, K. Chun and M. Ling (1996) Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex. J Inherit Metab Dis. 19 452-462.
43. M. Schaefer and J.D. Gitlin (1999) Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. Am J Physiol. 276 G311-G314.
44. M.L. Schlief, T. West, A.M. Craig, D.M. Holtzman and J.D. Gitlin (2006) Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity. Proc Natl Acad Sci U S A 103 14919-14924.
45. M. Segawa (2000) Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev. 22 Suppl 1 S65-S80.
46. M. Segawa, Y. Nomura and N. Nishiyama (2003) Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 54 S32-S45.
47. R.D. Steiner and S.D. Cederbaum (2001) Laboratory evaluation of urea cycle disorders. J Pediatr. 138 S21-S29.
48. B.L. Therrell, S.R. Panny, A. Davidson, J. Eckman, W.H. Hannon, M.A. Henson, et al. (1992) U.S. newborn screening system guidelines: Statement of the Council of Regional Networks for Genetic Services (CORN). Screening 1 135-147.
49. L. Tyfield, J. Reichardt, J. Fridovich-Keil, D.T. Croke, L.J. Elsas II, W. Strobl, et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 13 417-430.
50. J.L. Van Hove, J. Steyaert, G. Matthijs, E. Legius, P. Theys, R. Wevers, et al. (2006) Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 77 18-23.
51. D. Wang, J.M. Pascual, H. Yang, K. Engelstad, S. Jhung, R.P. Sun and D.C. De Vivo (2005) Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 57 111-118.