title: A "new" disorder of isoleucine catabolism.
abstract: A disorder of isoleucine catabolism was found in a child with intermittent metabolic acidosis. The block occurs at the stage of propionate synthesis, and two intermediates--alpha-methylacetoacetate and alpha-methyl-beta-hydroxybutyrate--accumulate. The condition is apparently inherited.
mesh_terms: D000090:Acetoacetates / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D007532:Isoleucine / Q000378:metabolism*; D008297:Male
chemical_list: D000090:Acetoacetates; D006885:Hydroxybutyrates; D007532:Isoleucine