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Case Reports
. 1984:7 Suppl 1:44-7.
doi: 10.1007/BF03047373.

Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency

P Divry, C Vianey-Liaud, J Cotte
Case Reports

Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency

P Divry et al. J Inherit Metab Dis. 1984.

Abstract

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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References

    1. Clin Chim Acta. 1979 May 16;94(1):31-9 - PubMed
    1. J Inherit Metab Dis. 1984;7 Suppl 1:48-51 - PubMed
    1. Biochim Biophys Acta. 1980 Nov 7;620(2):177-85 - PubMed
    1. Clin Chim Acta. 1983 Aug 15;132(2):181-91 - PubMed
    1. J Inherit Metab Dis. 1980;3(1):19-24 - PubMed

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