| Literature DB >> 733185 |
J C McCulloch, S A Arshinoff, E B Marliss, J A Parker.
Abstract
The diagnosis of hyperornithinemia and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) cataracts, (4) hyperornithinemia, and (5) autosomal recessive inheritance. We have seen three patients and described four new findings: (1) decreased whole blood glutamic acid, (2) low normal intelligence, (3) hepatic mitochondrial changes, and (4) urinary excretion of ornithine methyl ester. Investigations of amino acid metabolism in vivo are consistent with the presence of a defect in ornithine keto-acid transaminase.Entities:
Mesh：
Substances：
Year: 1978 PMID： 733185 DOI： 10.1016/s0161-6420(78)35598-6
Source DB: PubMed Journal: Ophthalmology ISSN： 0161-6420 Impact factor: 12.079