Skip to main content
SpringerLink
Log in

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several facts, namely the lack of an in-depth understanding of the pathophysiology of the disease, the lack of prospective studies, including the evaluation of drug monotherapy, and lack of objective documentation of clinical changes (e.g. video documentation) during pharmacotherapy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  • Amir N, El-Peleg O, Shalev RS, Christensen E (1987) Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology 37: 1654-1657.

    Google Scholar 

  • 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.

    Google Scholar 

  • Bodamer OA, Gruber S, Stöckler-Ipsiroglu S (2004) Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. JInheritMetabDis 27: 877-883.

    Google Scholar 

  • Brandt NJ, Gregersen N, Christensen E, Gron IH, Rasmussen K (1979) Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). JPeiatr 94: 669-673.

    Google Scholar 

  • Brustovetsky N, Brustovetsky T, Dubinsky J (2001) On the mechanisms of neuroprotection by creatine and phosphocreatine. J Neurochem 76: 425-434.

    Google Scholar 

  • 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. JInheritMetabDis 27: 911-915.

    Google Scholar 

  • Christensen E, Ribes A, Merinero B, Zschocke J (2004) Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. JInheritMetabDis 27: 861-868.

    Google Scholar 

  • Cortelli P, Montagna P, Pierangeli G, et al (1997) Clinical and brain bioenergetics improvement with idebenone in a patient with Leber 's hereditary optic neuropathy: a clinical and 31 P-MRS study. JNeurolSci 148: 25-31.

    Google Scholar 

  • 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.

    Google Scholar 

  • Francois B, Jaeken J, Gillis P (1990) Vigabatrin in the treatment of glutaric aciduria type I. JInheritMetabDis 13: 352-354.

    Google Scholar 

  • Gilgun-Sherki Y, Melamed E, Oüen D (2001) Oxidative stress-induced neurodegenerative diseases: the need for antioxidants that penetrate the blood brain barrier. Neuropharmacology 40: 959-975.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • Ihara Y, Namba R, Kuroda S, Sato T, Shirabe T (1989) Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone. JNeurolSci 90: 263-271.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • Kölker S, Burgard P, Okun JG, et al (2004b) Looking forward an evidence-based approach to glutaryl-CoA dehydrogenase deficiency. JInheritMetabDis 27: 921-926.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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 cer-ebral damage. Neuropediatrics 23: 322-326.

    Google Scholar 

  • 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 P diatr 205: 23-29.

    Google Scholar 

  • Leibel RL, Shih VE, Goodman SI, et al (1980) Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 30: 1163-1168.

    Google Scholar 

  • Lipkin PH, Roe CR, Goodman SI, Batshaw ML (1988) A case of glutaric acidemia type I: eüect of riboflavin and carnitine. JPeiatr 112: 62-65.

    Google Scholar 

  • Möller HE, Koch HG, Weglage J, Freudenberg F, Ullrich K(2003) Investigation of the cerebral energy status in patients with glutaric aciduria type I by 31 P magnetic resonance spectroscopy. Neuropediatrics 34: 57-60.

    Google Scholar 

  • 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.

    Google Scholar 

  • Pappert EJ, Tangey CC, Goetz CG, et al (1996) Alpha-tocopherol in the ventricular cerebrospinalfluid of Parkinson 's disease patients: dose-response study and correlations with plasma levels. Neurology 47: 1037-1042.

    Google Scholar 

  • 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.

    Google Scholar 

  • Rustin P, von Kleist-Retzow J-C, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A (1999) Eüect of idebenone on cardiomyopathy in Friedreich 's ataxia: a preliminary study. Lancet 354: 477-479.

    Google Scholar 

  • Soüer D, Amir N, Elpeleg ON, Gomori JM, Shalev RS, Gottschalk-Sabag S (1992) Striatal degeneration and spongy myelinopathy in glutaric acidemia. J Neurol Sci 107: 199-204.

    Google Scholar 

  • Stokke O, Goodman SI, Moe PG, (1976) Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and hydroxyglutarate: explanation of the symptoms in glutaric aciduria? Clin Chim Acta 66: 411-415.

    Google Scholar 

  • Strauss KA, Puüenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: Natural history of 77 patients. Am J Me Genet 121C: 38-52.

    Google Scholar 

  • Superti-Furga A, Hoffmann GF (1997) Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 156: 821-828.

    Google Scholar 

  • Tarnopolsky MA, Beal MF (2001) Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders. Ann Neurol 49: 561-574.

    Google Scholar 

  • Zs-Nagy I (1990) Chemistry, toxicology, pharmacology and pharmacokinetics of idebenone: a review. Arch Gerontol Geriatr 11: 177-186.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Paediatrics, Metabolic Service, University Medical Centers, Hamburg, Germany

    C. Mühlhausen & K. Ullrich

  2. Departments of Paediatrics, Metabolic Service, University Medical Centers, Heidelberg, Germany

    G. F. Hoffmann, S. KÖlker & J. G. Okun

  3. Departments of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada

    C. R. Greenberg

  4. Children's Hospital, Dublin, Ireland

    E. R. Naughten

  5. Clinic for Special Children, Strasburg, Pennsylvania, USA

    K. A. Strauss

Authors
  1. C. Mühlhausen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. F. Hoffmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. K. A. Strauss
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. KÖlker
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. G. Okun
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. R. Greenberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. E. R. Naughten
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. K. Ullrich
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to K. Ullrich.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mühlhausen, C., Hoffmann, G.F., Strauss, K.A. et al. Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27, 885–892 (2004). https://doi.org/10.1023/B:BOLI.0000045773.07785.83

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/B:BOLI.0000045773.07785.83

Keywords

Search

Navigation