L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.

Abstract

L-Ornithine-ketoacid-transaminase deficiency was established in cultured fibroblasts obtained from a patient with hyperornithinaemia (mean ornithine level in serum approximately 100 mumol/l) and gyrate atrophy of the choroid and retina. The deficiency was found both the L-ornithine concentrations of 3.0 mM (about twice the KM value) and 12 mM, indicating… (More)

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