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B6db references: 20085328

type Journal Article
authors Mashima, Y. G.; Weleber, R. G.; Kennaway, N. G.; Inana, G.
title Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy
journal Ophthalmic Genet
ui 20085328
year (1999)
volume 20
number 4
pages 219-24.
keywords Amino Acid Sequence
abstract Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies. Dose-dependent effects of the E318K mutation were observed in the homo- and heterozygotes in the OAT activity, increase of OAT activity in the presence of pyridoxal phosphate, and apparent Km for pyridoxal phosphate. The highest residual level of OAT activity and mildness of clinical disease correlated directly with the dose of the mutant E318K allele present in the patient.
last changed 2002/11/04 17:41

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