Title: Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome<i>c</i> oxidase deficiency
Abstract: Journal of Inherited Metabolic DiseaseVolume 16, Issue 3 p. 557-559 Short Communication Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency W. Lehnert, W. Lehnert University Children's Hospital, Mathildenstr. 1, Freiburg, D-7800 GermanySearch for more papers by this authorW. Ruitenbeek, W. Ruitenbeek Radboud Hospital, Department of Pediatrics, University of Nijmegen, Nijmegen, NL-6500 HB The NetherlandsSearch for more papers by this author W. Lehnert, W. Lehnert University Children's Hospital, Mathildenstr. 1, Freiburg, D-7800 GermanySearch for more papers by this authorW. Ruitenbeek, W. Ruitenbeek Radboud Hospital, Department of Pediatrics, University of Nijmegen, Nijmegen, NL-6500 HB The NetherlandsSearch for more papers by this author First published: 01 May 1993 https://doi.org/10.1007/BF00711680Citations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL 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. Citing Literature Volume16, Issue3May 1993Pages 557-559 ReferencesRelatedInformation
Publication Year: 1993
Publication Date: 1993-05-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 26
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