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Gas chromatography‐mass spectrometry (GC‐MS) diagnosis of two cases of medium chain Acyl‐CoA dehydrogenase deficiency
Author(s) -
Divry P.,
VianeyLiaud C.,
Cotte J.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf03047373
Subject(s) - chemistry , dicarboxylic acid , gas chromatography–mass spectrometry , mass spectrometry , glycine , gas chromatography , biochemistry , sebacic acid , chromatography , excretion , acyl coa dehydrogenase , amino acid , enzyme , dehydrogenase , organic chemistry
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.