Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II

作者：Nanna Vendelboe Gregersen, Steen Kølvraa, Kasper Dindler Rasmussen, E. Christensen, N. J. Brandt, Finn Ebbesen, Fernanda Hansen · 发表于：Journal of Inherited Metabolic Disease · 年份：1980 · DOI：10.1007/bf02312527 · 被引用次数：64 · 研究领域：Metabolism and Genetic Disorders、Hyperglycemia and glycemic control in critically ill and hospitalized patients、Metabolomics and Mass Spectrometry Studies

The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3-hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2-methylbutyric acid, adipic acid, caproylglycine, 5-hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3-hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl-CoAs and sarcosine. Normal activity of glutaryl-CoA dehydrogenase was found, excluding glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).