Hyperornithinemia, Gyrate Atrophy, and Ornithine Ketoacid Transaminase
We examined four cases of Japanese patients with gyrate atrophy of the choroid and retina. All cases had hyperornithinemia and deficiency of ornithine ketoacid transaminase (OKT). Two types of disease in responsiveness to vitamin B6, the responsive and non-responsive, were found. The responsive type showed the in vivo reduction of serum ornithine level after oral vitamin B6 and the OKT activity increased by high concentration of pyridoxal phosphate.
KeywordsRetinal Pigment Epithelium Ciliary Body Arginase Activity Pyridoxal Phosphate Night Blindness
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