Pyridoxine Effects on Ornithine Ketoacid Transaminase Activity in Fibroblasts from Carriers of Two Forms of Gyrate Atrophy of the Choroid and Retina

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1988 Dec 1

PMID 3195590

Citations 1

Authors

V E Shih

R Mandell

E L Berson

Affiliations

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Abstract

Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of OKT activity. These two variants can be distinguished by the in vitro responsiveness of OKT activity to pyridoxal phosphate (PLP) stimulation. The ratios of OKT activity at 0.04 mM PLP compared with activity at 0 mM PLP were, respectively, lowest for controls (1.18 +/- 0.18; N = 12), intermediate for pyridoxine-nonresponsive heterozygotes (1.43 +/- 0.26; N = 5), and highest for pyridoxine-responsive heterozygotes (2.20 +/- 0.14; N = 3).

Citing Articles

CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy.

Maldonado R, Jalil S, Keskinen T, Nieminen A, Hyvonen M, Lapatto R Mol Genet Metab Rep. 2022; 31:100863.

PMID: 35782600 PMC: 9248217. DOI: 10.1016/j.ymgmr.2022.100863.

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