An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.

Acidosis/etiology,urine Amino Acid Metabolism, Inborn Errors/complications,genetics,urine Butyrates/urine Cells, Cultured Child Child, Preschool Chromatography, Gas Chromatography, Paper Chromatography, Thin Layer Female Fibroblasts/metabolism Glycine/urine Humans Hydroxybutyrates/metabolism,urine Infant Isoleucine/metabolism Keto Acids/metabolism,urine Ketones/urine Male Mass Spectrometry Mutation Pedigree Phenotype Skin/metabolism Valerates/metabolism,urine

Butyrates Hydroxybutyrates Keto Acids Ketones Valerates Isoleucine Glycine