Challenges for basic research in glutaryl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 843-849

  Kölker, Stefan ^a   Strauss, K A ^b   Goodman, S I ^c   Hoffmann, G F ^a   Okun, J G ^a   Koeller, D M ^d  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c UNIVERSITY OF COLORADO   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYGLUTARIC ACID; CYTOKINE; GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; BRAIN NECROSIS; CORPUS STRIATUM; CYTOKINE PRODUCTION; ENZYME DEFICIENCY; EVIDENCE BASED MEDICINE; GENE EXPRESSION; HUMAN; HYPOTHESIS; IN VITRO STUDY; IN VIVO STUDY; INBORN ERROR OF METABOLISM; METABOLITE; NERVE CELL NECROSIS; NEUROMODULATION; NEUROTOXICITY; NONHUMAN; PATHOPHYSIOLOGY;

AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; NEOSTRIATUM; NEURONS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 7244227860     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045768.38073.22     Document Type: Article

References (40)

1. Bähr O, Mader I, Zschocke J, et al (2002) Adult onset glutaric aciduria type I presenting with leukoencephalopathy. Neurology 59: 1802-1804.
2. Brismar J, Ozand PT (1995) CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients. Am J Neuroradiol 16: 675-683.
3. Brouillet E, Jenkins BG, Hyman BT, et al (1993) Age-dependent vulnerability of the striatum to the mitochondrial toxin 3-nitropropionic acid. J Neurochem 60: 356-359.
4. Busquets C, Merinero B, Christensen E, et al (2000) Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48: 315-322.
5. de Mello CF, Kölker S, Ahlemeyer B, et al (2001) Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and excitotoxic lesions in rats. Brain Res 916: 70-75.
6. Goodman SI, Norenberg MD, Shikes RH, et al (1977) Glutaric aciduria: biochemical and morphological considerations. J Pediatr 90: 746-750.
7. Greene JG, Porter RH, Eller RV, Greenamyre JT (1993) Inhibition of succinate dehydrogenase by malonic acid produces an 'excitotoxic' lesion in rat striatum. J Neurochem 61: 1151-1154.
8. Hewett SJ, Csernansky CA, Choi DW (1994) Selective potentiation of NMDA-induced neuronal injury following induction of astrocytic iNOS. Neuron 13: 487-494.
9. 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.
10. Ikonomidou C, Bosch F, Miksa M, et al (1999) Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain. Science 283: 70-74.
11. Knerr I, Zschocke J, Trautmann U, et al (2002) Glutaric aciduria type III: A distinctive non-disease? J Inherit Metab Dis 25: 483-490.
12. Koeller DM, DiGuilio KA, Angeloni SV, et al (1995) Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Genomics 28: 508-512.
13. Koeller DM, Woontner M, Crnic LS, et al (2002) Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 11: 347-357.
14. Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann GF (2001) Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 50: 76-82.
15. + dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 52: 199-206.
16. Kölker S, Schor DSM, Feyh P, et al (2003) Glutaryl-CoA dehydrogenase deficiency: Region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 34: 253-260.
17. Kölker S, Koeller DM, Sauer S, et al (2004) Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 805-812.
18. Latini A, Borba Rosa R, Scussiato K, et al (2002) 3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats. Brain Res 956: 367-373.
19. Leibel RL, Shih VE, Goodman SI, et al (1980) Glutaric acidemia: A metabolic disorder causing progressive choreoathethosis. Neurology 30: 1163-1168.
20. Liesert M, Zschocke J, Hoffmann GF, Muhlhauser N, Buckel W (1999) Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase. J Inherit Metab Dis 22: 256-258.
21. Lima TTF, Begnini J, de Bastiani J, et al (1998) Pharmacological evidence for GABAergic and glutamatergic involvement in the convulsant and behavioral effects of glutaric acid. Brain Res 802: 55-60.
22. Mühlhausen C, Hoffmann GF, Strauss KA, et al (2004a) Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 885-892.
23. Mühlhausen C, Ergün S, Strauss KA, et al (2004b) Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. J Inherit Metab Dis 27: 829-834.
24. McMillan TA, Gibson KM, Sweetman L, Meyers GS, Green R (1988) Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase. J Biol Chem 263: 17258-17261.
25. Nansen EA, Jokel ES, Lobo MK, Micevych PE, Ariano MA, Levine MS (2000) Striatal ionotropic glutamate receptor ontogeny in the rat. Dev Neurosci 22: 329-340.
26. Nishino H, Hida H, Kumazaki M, et al (2000) The striatum is the most vulnerable region in the brain to mitochondrial energy compromise: A hypothesis to explain its specific vulnerability. J Neurotrauma 17: 251-260.
27. 3H]glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro. J Neurol Sci 173: 93-96.
28. Resink A, Villa M, Benke D, et al (1996) Characterization of agonist-induced downregulation of NMDA receptors in cerebellar granule cell cultures. J Neurochem 66: 369-377.
29. Soffer D, Amir N, Elpeleg ON, et al (1992) Striatal degeneration and spongy myelinopathy in glutaric acidemia. J Neurol Sci 107: 199-204.
30. Stokke O, Goodman SI, Moe PG (1976) Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-hydroxyglutarate: explanation of the symptoms in glutaric aciduria? Clin Chim Acta 66: 411-415.
31. Strauss KA, Morton DH (2003) Type I glutaric aciduria, part 2: A model of acute striatal necrosis. Am J Med Genet 121C: 53-70.
32. Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: Natural history of 77 patients. Am J Med Genet 121C: 38-52.
33. Twomey EL, Naughten ER, Donoghuej VB, Ryan S (2003) Neuroimaging findings in glutaric aciduria type I. Pediatr Radiol 33: 823-830.
34. Ullrich K, Flott-Rahmel B, Schluff P, et al (1999) Glutaric aciduria type I: Pathomechanism of neurodegeneration. J Inherit Metab Dis 22: 392-403.
35. Vamecq J, de Hoffmann E, van Hoof F (1985) Mitochondrial and peroxisomal metabolism of glutaryl-CoA. Eur J Biochem 146: 663-669.
36. Varadkar S, Surtees R (2004) Glutaric aciduria type I and kynurenine pathway metabolites: A modified hypothesis. J Inherit Metab Dis 27: 835-842.
37. Volpe JJ (2001) Hypoxic-ischemic encephalopathy: Biochemical and physiological aspects. In: Volpe JJ, ed. Neurology of the Newborn, 4th ed. Philadelphia: WB Saunders, 217-277.
38. Wallace DC, Lott MT, Brown MD, Kerstmann K (2001) Mitochondria and neuro-ophthalmological diseases. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2425-2512.
39. Woontner M, Crnic LS, Koeller DM (2000) Analysis of the expression of murine glutaryl-CoA dehydrogenase: in vitro and in vivo studies. Mol Genet Metab 69: 116-122.
40. Yannicelli S, Rohr F, Warman ML (1994) Nutrition support for glutaric acidemia type I. J Am Diet Assoc 94: 183-188.