Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases.
D002675:Child, Preschool; D006801:Humans; D006948:Hyperkinesis / Q000209:etiology*; D008607:Intellectual Disability / Q000209:etiology*; D007532:Isoleucine / Q000097:blood; D007651:Keto Acids / Q000097:blood / Q000652:urine; D007930:Leucine / Q000097:blood; D008297:Male; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000652:urine; D010375:Pedigree; D011773:Pyruvates / Q000097:blood; D014633:Valine / Q000097:blood
D007651:Keto Acids; D011773:Pyruvates; D007532:Isoleucine; D007930:Leucine; D014633:Valine