Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy

Yukihiko Mashima, Richard G. Weleber, Nancy G. Kennaway, George Inana

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


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 USA 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.

Original languageEnglish (US)
Pages (from-to)219-224
Number of pages6
JournalOphthalmic Genetics
Issue number4
StatePublished - 1999
Externally publishedYes


  • Genotype-phenotype correlation
  • Gyrate atrophy
  • Ornithine aminotransferase
  • Viatmin B6 responsive

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


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