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Amendt BA, Norbeck BA, Moon AM, Rhead WJ (1985) A new defect of β-oxidation: short-chain acyl-CoA dehydrogenase deficiency.Pediatr Res 19: 309A.
Burlina AB, Zacchello F, Dionisi-Vici C et al (1991) New clinical phenotype of branched-chain acyl-CoA oxidation defect.Lancet 338: 1522–1523.
Christensen 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.
Duran M, Walther FJ, Bruinvis L, Wadman SK (1983) The urinary excretion of ethylmalonic acid: What level requires further attention?Biochem Med 29: 171–175.
Hoffmann 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.
Mantagos 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.
Reichmann 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.
Trijbels 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.
Turnbull 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.
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Lehnert, W., Ruitenbeek, W. Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency. J Inherit Metab Dis 16, 557–559 (1993). https://doi.org/10.1007/BF00711680
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DOI: https://doi.org/10.1007/BF00711680