Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 885-892

  Muhlhausen C ^a   Hoffmann, G F ^b   Strauss, K A ^e   Kolker S ^b   Okun, J G ^b   Greenberg, C R ^c   Naughten, E R ^d   Ullrich, K ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Hospital Heidelberg   (Germany)

^c UNIVERSITY OF MANITOBA   (Canada)

^d Children's University Hospital   (Ireland)

^e CLINIC FOR SPECIAL CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRATE AMINOTRANSFERASE INHIBITOR; 4 AMINOBUTYRIC ACID A RECEPTOR STIMULATING AGENT; ALPHA TOCOPHEROL; ANTIOXIDANT; ASCORBIC ACID; BACLOFEN; BENZODIAZEPINE; CARBIDOPA PLUS LEVODOPA; CARNITINE; CHOLINERGIC RECEPTOR BLOCKING AGENT; GLUTARYL COENZYME A DEHYDROGENASE; IDEBENONE; RIBOFLAVIN; THIOCTIC ACID; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; VITAMIN Q;

ARTICLE; BLOOD BRAIN BARRIER; CHILD; DIET SUPPLEMENTATION; DISEASE EXACERBATION; DRUG MECHANISM; DRUG PENETRATION; ENZYME DEFICIENCY; GERMANY; HUMAN; MAINTENANCE THERAPY; MEDICAL DOCUMENTATION; MONOTHERAPY; NEUROLOGIC DISEASE; NONHUMAN; PATHOPHYSIOLOGY; PRACTICE GUIDELINE; PROSPECTIVE STUDY; PROTEIN RESTRICTION; VIDEORECORDING; WORKSHOP;

AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; ANTIOXIDANTS; CARNITINE; GLUTARYL-COA DEHYDROGENASE; HUMANS; MONITORING, PHYSIOLOGIC; NERVOUS SYSTEM DISEASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; RIBOFLAVIN;

EID: 7244236511     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045773.07785.83     Document Type: Article

References (33)

1. Amir N, El-Peleg O, Shalev RS, Christensen E (1987) Glutaric aciduria type I: Clinical heterogeneity and neuroradiologic features. Neurology 37: 1654-1657.
2. Arts WFM, Scholte HR, Bogaard JM, Kerrebijn KF, Luyt-Houwen IEM (1983) NADH-CoQ reductase deficient myopathy: Successful treatment with riboflavin. Lancet 2: 581-582.
3. Bodamer OA, Gruber S, Stöckler-Ipsiroglu S (2004) Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 877-883.
4. Brandt NJ, Gregersen N, Christensen E, Gron IH, Rasmussen K (1979) Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). J Pediatr 94: 669-673.
5. Brustovetsky N, Brustovetsky T, Dubinsky J (2001) On the mechanisms of neuroprotection by creatine and phosphocreatine. J Neurochem 76: 425-434.
6. Burlina AP, Zara G, Hoffmann GF, Zschocke J, Burlina B (2004) Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options. J Inherit Metab Dis 27: 911-915.
7. Christensen E, Ribes A, Merinero B, Zschocke J (2004) Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 861-868.
8. 31P-MRS study. J Neurol Sci 148: 25-31.
9. Das AM, Lücke T, Ullrich K (2003) Glutaric aciduria I: Creatine supplementation restores creatine phosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate. Mol Genet Metab 78: 108-111.
10. Francois B, Jaeken J, Gillis P (1990) Vigabatrin in the treatment of glutaric aciduria type I. J Inherit Metab Dis 13: 352-354.
11. Gilgun-Sherki Y, Melamed E, Offen D (2001) Oxidative stress-induced neurodegenerative diseases: The need for antioxidants that penetrate the blood brain barrier. Neuropharmacology 40: 959-975.
12. 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.
13. Hoppel CL, Kerr DS, Dahms B, Roessmann U (1987) Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. J Clin Invest 80: 71-77.
14. Ihara Y, Namba R, Kuroda S, Sato T, Shirabe T (1989) Mitochondrial encephalomyopathy (MELAS): Pathological study and successful therapy with coenzyme Q10 and idebenone. J Neurol Sci 90: 263-271.
15. Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann G (2001) Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 50: 76-82.
16. Kölker S, Hoffmann GF, Schor DSM, 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, Burgard P, Okun JG, et al (2004b) Looking forward - an evidence-based approach to glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 921-926.
18. Kyllermann M, Skjeldal O, Lundberg M, et al (1994) Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations. Mov Disord 9: 22-30.
19. Land JM, Goulder P, Johnson A, Hockaday J (1992) Glutaric aciduria type I: An atypical presentation together with some observations upon treatment and the possible cause of cerebral damage. Neuropediatrics 23: 322-326.
20. Lawrenz-Wolf B, Herberg K-P, Hoffmann GF, Hunnemann DH, Lehnert W, Hanefeld F (1993) Entwicklung der Hirnatrophie, Therapie und Therapieüberwachung bei Glutarazidurie Typ I (Glutaryl-CoA-Dehydrogenase-Mangel). Klin Pädiatr 205: 23-29.
21. Leibel RL, Shih VE, Goodman SI, et a] (1980) Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis. Neurology 30: 1163-1168.
22. Lipkin PH, Roe CR, Goodman SI, Batshaw ML (1988) A case of glutaric acidemia type I: Effect of riboflavin and carnitine. J Pediatr 112: 62-65.
23. 31P magnetic resonance spectroscopy. Neuropediatrics 34: 57-60.
24. Müller E, Kölker S (2004) Reduction of lysine while avoiding malnutrition major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27 903-910.
25. Pappert EJ, Tangey CC, Goetz CG, et al (1996) Alpha-tocopherol in the ventricular cerebrospinal fluid of Parkinson's disease patients: dose-response study and correlations with plasma levels. Neurology 47: 1037-1042.
26. Rakocevic G, Lyons KE, Wilkinson SB, Overman JW, Pahwa R (2004) Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria. Stereotact Funct Neurosurg 82: 80-83.
27. Rustin P, von Kleist-Retzow J-C, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A (1999) Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study. Lancet 354: 477-479.
28. Soar D, Amir N, Elpeleg ON, Gomori JM, Shalev RS, Gottschalk-Sabag S (1992) Striatal degeneration and spongy myelinopathy in glutaric acidemia. J Neural Sci 107: 199-204.
29. 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.
30. Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part I: Natural history of 77 patients. Am J Med Genet 121C: 38-52.
31. Superti-Furga A, Hoffmann GF (1997) Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): Advances and unanswered questions. Eur J Pediatr 156: 821-828.
32. Tarnopolsky MA, Beal MF (2001) Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders. Ann Neurol 49: 561-574.
33. Zs-Nagy I (1990) Chemistry, toxicology, pharmacology and pharmacokinetics of idebenone: A review. Arch Gerontol Geriatr 11: 177-186.