Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.
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).
D000214:Acyl Coenzyme A / Q000378:metabolism*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology; D000596:Amino Acids / Q000097:blood / Q000652:urine; D002264:Carboxylic Acids / Q000652:urine; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005977:Glutarates / Q000378:metabolism / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000378:metabolism*; D010088:Oxidoreductases / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012521:Sarcosine / Q000378:metabolism*
D000214:Acyl Coenzyme A; D000596:Amino Acids; D002264:Carboxylic Acids; D005977:Glutarates; D010088:Oxidoreductases; D044943:Fatty Acid Desaturases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; D012521:Sarcosine