Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria.
D000409:Alanine / Q000097:blood* / Q000652:urine*; D000596:Amino Acids / Q000652:urine; D050260:Carbohydrate Metabolism; D002524:Cerebellar Ataxia / Q000150:complications*; D002675:Child, Preschool; D002854:Chromatography, Paper; D006801:Humans; D007773:Lactates / Q000097:blood / Q000652:urine; D008297:Male; D009896:Optic Atrophy / Q000150:complications; D011506:Proteins / Q000378:metabolism; D011773:Pyruvates / Q000097:blood* / Q000652:urine; D013831:Thiamine / Q000627:therapeutic use; D013832:Thiamine Deficiency / Q000150:complications
D000596:Amino Acids; D007773:Lactates; D011506:Proteins; D011773:Pyruvates; D000409:Alanine; D013831:Thiamine