Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase

Science. 1978 Apr 14;200(4338):200-1. doi: 10.1126/science.635581.

Abstract

Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Female
  • Heterozygote
  • Humans
  • Ornithine / blood
  • Ornithine-Oxo-Acid Transaminase / deficiency*
  • Pedigree
  • Retinal Degeneration / enzymology*
  • Retinal Degeneration / genetics
  • Transaminases / deficiency*

Substances

  • Ornithine
  • Transaminases
  • Ornithine-Oxo-Acid Transaminase