Abstract
Investigations are described on a child admitted to hospital with acute acidosis and hypoglycaemia. Initial TLC and GLC showed presence of unidentifiable organic acids in the urine. Further investigations of these organic acids by GLC-MS demonstrated abnormally high concentration of 3-hydroxy-isovaleric, 3-methylglutaric, 3 methylglutaconic and 3-hydroxy-3-methylglutaric acids. This profile differed from that seen in the three known defects of leucine catabolism and suggested a deficiency in the cleavage of 3-hydroxy-3-methylglutaryl CoA to acetoacetate and acetyl CoA. Studies on cultured skin fibroblasts and peripheral leucocytes have shown a markedly reduced activity of the enzyme 3-hydroxy-3-methyl-glutaryl CoA lyase. Estimation of this enzyme activity in the parents' peripheral leucocytes suggest a genetic basis for the condition.
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