Gyrate Atrophy of Choroid and Retina: Deficient Activity of Ornithine Ketoacid Aminotransferase in Cultured Skin Fibroblasts

Nancy G. Kennaway, Richard G. Weleber, Neil R.M. Buist

Research output: Contribution to journalLetter

24 Scopus citations

Abstract

To the Editor: Takki,1 in 1974, described a 10-fold elevation of plasma ornithine levels in patients with a rare autosomal recessive disorder, gyrate atrophy of the choroid and retina. She also suggested that the deficient activity was probably ornithine ketoacid aminotransferase. This deficiency has recently been described in fibroblasts in an abstract by Sengers et al.,2 but no quantitative data were reported. Berson, Schmidt and Rabin3 have suggested the possibility of a deficiency of other enzymes, such as ornithine decarboxylase. We have studied two patients with typical gyrate atrophy of the choroid and retina. Their plasma ornithine levels were. No extract is available for articles shorter than 400 words.

Original languageEnglish (US)
Number of pages1
JournalNew England Journal of Medicine
Volume297
Issue number21
DOIs
StatePublished - Nov 24 1977

ASJC Scopus subject areas

  • Medicine(all)

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