Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II
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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).
KeywordsButyric Acid Severe Hypoglycaemia Adipic Acid Sarcosine Caproic Acid
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- Gregersen, N., KØlvraa, S. and Rasmussen, K. Mass fragmentographic analyses of short- and medium-chain raonoand di-carboxylic acids in urine. In Eggstein, M. and Liebich, H. M. (eds.)Proceedings from a Symposium about Mass Spectrometry and Combined Techniques in Medicine, Clinical Chemistry and Clinical Biochemistry. Tubingen, 1977b, pp.180–191Google Scholar
- Mantagos, S., Genel, M. and Tanaka, K. Ethylmalonic-adipic aciduria: a new defect of butyrate oxidation associated with hypoglycemia.Pediatr. Res. 12 (1978) 453Google Scholar
- Tanaka, K. Disorders of organic acid metabolism. In Gaull, G. E. (ed.)Biology of Brain Dysfunction, vol. 3. Plenum Publishing Corporation, New York, 1975, pp. 145–214Google Scholar
- Tanaka, K., Kean, E. A. and Johanson, B. Jamaican vomiting sickness: biochemical investigation of two cases.N. Engl. J. Med. 295 (1977b) 461–467Google Scholar
- Tanaka, K., Mandell, R. and Shih, V. E. Metabolism of 1-[14C]- and 2-[14C]leucine in cultured skin fibroblasts from patients with isovaleric acidemia.J. Clin. Invest. 58 (1977a) 164–172Google Scholar