Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".

摘要: A patient was investigated who had the "ketotic hyperglycinemia syndrome" with normal propionate and methyimalonate metabolism, but a markedly decreased ability to catabolize isoleucine. Gas liquid chromatography of her urine revealed excretion large amounts α-methyl β-hydroxybutyrate α-methyl-acetoacetate. Thin layer dinitrophenylhydrazones urinary ketones showed quantities butanone smaller pentanone hexanone. Incubation fibroblasts isoleucine-u-14C demonstrated production butanone-14C. These findings suggest that this child has deficient activity β-ketothiolase reaction which cleaves α-methylacetoacetyl CoA propionyl acetyl CoA. This indicates another potentially treatable disease must be considered in young infant presents vomiting acidosis.