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

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.

• Authors: P Divry, C Vianey-Liaud, J Cotte
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 7 Suppl 1 Pg. 44-7 ( 1984) ISSN: 0141-8955 [Print] United States
• PMID: 6434844 (Publication Type: Case Reports, Journal Article)

Chemical References

• Blood Glucose
• Dicarboxylic Acids
• Acyl-CoA Dehydrogenases
• Acyl-CoA Dehydrogenase

Topics

• 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)