Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000201:enzymology / Q000235:genetics / Q000378:metabolism* / Q000628:therapy / Q000652:urine; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood*; D001259:Ataxia / Q000150:complications; D002675:Child, Preschool; D002956:Citrulline / Q000652:urine*; D004035:Diet Therapy; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008239:Lysine / Q000378:metabolism; D008297:Male; D009207:Myoclonus / Q000150:complications*; D009952:Ornithine / Q000097:blood* / Q000378:metabolism; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism; D012640:Seizures / Q000150:complications
D000596:Amino Acids; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine; D009954:Ornithine Carbamoyltransferase; D008239:Lysine