Document Detail

Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.
MedLine Citation:
PMID:  6434844     Owner:  NLM     Status:  MEDLINE    
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.
P Divry; C Vianey-Liaud; J Cotte
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  7 Suppl 1     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1984  
Date Detail:
Created Date:  1984-11-09     Completed Date:  1984-11-09     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  44-7     Citation Subset:  IM    
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MeSH Terms
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases / deficiency*
Blood Glucose / metabolism
Child, Preschool
Dicarboxylic Acids / urine
Gas Chromatography-Mass Spectrometry
Hypoglycemia / metabolism
Metabolism, Inborn Errors / diagnosis*,  metabolism
Reg. No./Substance:
0/Blood Glucose; 0/Dicarboxylic Acids; EC 1.3.-/Acyl-CoA Dehydrogenases; EC Dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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