Short Communication
Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency
First published: 01 May 1993
No abstract is available for this article.
References
- 1Amendt BA, Norbeck BA, Moon AM, Rhead WJ (1985) A new defect of β-oxidation: short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res, 19: 309A.
- 2Burlina AB, Zacchello F, Dionisi-Vici C et al (1991) New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet, 338: 1522–1523.
- 3Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W (1993) Muscle cytochromec oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inher Metab Dis, 16: 553–556.
- 4Duran M, Walther FJ, Bruinvis L, Wadman SK (1983) The urinary excretion of ethylmalonic acid: What level requires further attention?. Biochem Med, 29: 171–175.
- 5Hoffmann GF, Hunneman DH, Jakobs C et al (1990) Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. J Inher Metab Dis, 13: 337–340.
- 6Mantagos S, Genel M, Tanaka K (1979) Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activity of multiple acyl-CoA dehydrogenases. J Clin Invest, 64: 1580–1589.
- 7Reichmann H, Scheel H, Bier B, Ketelsen U-P, Zabransky S (1992) Cytochromec oxidase deficiency and long-chain acyl-CoA dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy. Ann Neurol, 31: 107–109.
- 8Trijbels JMF, Sengers RCA, Ruitenbeek W, Fischer JC, Bakkeren JAJM, Janssen AJM (1988) Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach. Eur J Pediatr, 148: 92–97.
- 9Turnbull DM, Bartlett K, Stevens DL et al (1984) Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid storage myopathy and secondary carnitine deficiency. N Engl J Med, 311: 1232–1236.
