TY - JOUR
T1 - Gyrate Atrophy of Choroid and Retina
T2 - Deficient Activity of Ornithine Ketoacid Aminotransferase in Cultured Skin Fibroblasts
AU - Kennaway, Nancy G.
AU - Weleber, Richard G.
AU - Buist, Neil R.M.
PY - 1977/11/24
Y1 - 1977/11/24
N2 - 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.
AB - 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.
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U2 - 10.1056/NEJM197711242972116
DO - 10.1056/NEJM197711242972116
M3 - Letter
C2 - 917049
AN - SCOPUS:0017782425
SN - 0028-4793
VL - 297
SP - 1180
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 21
ER -