An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.
D000138:Acidosis / Q000209:etiology* / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000652:urine; D002087:Butyrates / Q000652:urine; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D002854:Chromatography, Paper; D002855:Chromatography, Thin Layer; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005998:Glycine / Q000652:urine; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism* / Q000652:urine; D007223:Infant; D007532:Isoleucine / Q000378:metabolism*; D007651:Keto Acids / Q000378:metabolism* / Q000652:urine; D007659:Ketones / Q000652:urine; D008297:Male; D013058:Mass Spectrometry; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000378:metabolism; D014631:Valerates / Q000378:metabolism / Q000652:urine
D002087:Butyrates; D006885:Hydroxybutyrates; D007651:Keto Acids; D007659:Ketones; D014631:Valerates; D007532:Isoleucine; D005998:Glycine