title: Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study.
abstract: Two siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria are reported. The clinical picture included protein intolerance, mental retardation, seizures, and stuporous episodes. One patient had cerebellar ataxia, myoclonus, convulsive seizure, and muscular weakness in both legs. Isolated liver mitochondria in the patient revealed that ornithine transport and citrulline synthesis were decreased, but urea cycle enzymes and ornithine aminotransferase were normal. Ornithine metabolism was decreased in cultured skin fibroblasts.
authors: Department of Neurology, Niigata University, Japan.
authors: R
authors: R
authors: Koike
authors: K
authors: K
authors: Fujimori
authors: T
authors: T
authors: Yuasa
authors: T
authors: T
authors: Miyatake
authors: I
authors: I
authors: Inoue
authors: T
authors: T
authors: Saheki
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000378:metabolism*; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000378:metabolism*; D002956:Citrulline / Q000652:urine*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism*; D008297:Male; D009952:Ornithine / Q000378:metabolism*; D012016:Reference Values; D012867:Skin / Q000378:metabolism*
chemical_list: D000596:Amino Acids; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine