| Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 6434844 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two patients with hypoketotic hypoglycaemia and dicarboxylic aciduria are described. Studies of their urinary organic acids by gas chromatography-mass spectrometry (GC-MS) showed an excretion of dicarboxylic acids (adipic suberic and sebacic acids), unsaturated dicarboxylic acids (cis-octenedioic and decenedioic acids),5-hydroxyhexanoic acid, hexanoyl-glycine and suberylglycine. Deficiency of the medium chain acyl-CoA dehydrogenase (MCAD) in fibroblasts was documented for both children. Despite a similar presentation (hypoglycaemic coma), organic acid profile (dicarboxylic aciduria and suberylglycine excretion) and enzyme deficiency (MCAD), they did not respond similarly to glucose infusion. |
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Authors:
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P Divry; C Vianey-Liaud; J Cotte |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 7 Suppl 1 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1984 |
Date Detail:
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Created Date: 1984-11-09 Completed Date: 1984-11-09 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 44-7 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyl-CoA Dehydrogenase Acyl-CoA Dehydrogenases / deficiency* Blood Glucose / metabolism Child, Preschool Dicarboxylic Acids / urine Female Gas Chromatography-Mass Spectrometry Humans Hypoglycemia / metabolism Infant Male Metabolism, Inborn Errors / diagnosis*, metabolism |
| Chemical | |
Reg. No./Substance:
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0/Blood Glucose; 0/Dicarboxylic Acids; EC 1.3.-/Acyl-CoA Dehydrogenases; EC 1.3.99.3/Acyl-CoA Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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