Am J Ophthalmol. 1978 Feb;85(2):200-4.

A specific enzyme defect in gyrate atrophy.

Kaiser-Kupfer MI, Valle D, Del Valle LA.

Abstract

To establish the enzyme defect in gyrate atrophy, we measured the activity of ornithine aminotransferase in phytohemagglutinin stimulated lymphocytes in a patient with gyrate atrophy, her daughter, and three normal controls. The patient's cells had no detectable ornithine aminotransferase activity and the daughter's cells had 44% of control activity. This intermediate value is characteristic of an obligate heterozygote. These results are the first demonstration of an enzyme defect in gyrate atrophy.

PMID:: 623190; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Case Reports

MeSH Terms

Substances

LinkOut - more resources

Medical

Retinal Disorders - MedlinePlus Health Information

Supplemental Content

Save items

Related citations in PubMed

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. [Proc Natl Acad Sci U S A. 1977]
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
Valle D, Kaiser-Kupfer MI, Del Valle LA. Proc Natl Acad Sci U S A. 1977 Nov; 74(11):5159-61.
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. [Science. 1978]
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.
O'Donnell JJ, Sandman RP, Martin SR. Science. 1978 Apr 14; 200(4338):200-1.
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. [Am J Hum Genet. 1989]
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.
Hotta Y, Kennaway NG, Weleber RG, Inana G. Am J Hum Genet. 1989 Mar; 44(3):353-7.
Review Gyrate atrophy of the choroid and retina. Approaches to therapy. [Int Ophthalmol. 1981]
Review Gyrate atrophy of the choroid and retina. Approaches to therapy.
Weleber RG, Kennaway NG, Buist NR. Int Ophthalmol. 1981 Aug; 4(1-2):23-32.
Review Molecular basis of ornithine aminotransferase defect in gyrate atrophy. [Prog Clin Biol Res. 1991]
Review Molecular basis of ornithine aminotransferase defect in gyrate atrophy.
Inana G, Hotta Y, Zintz C, Chambers C, Kennaway NG, Weleber RG, Nakajima A, Shiono T. Prog Clin Biol Res. 1991; 362:191-219.

See reviews... See all...

Cited by 5 PubMed Central articles

Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. [Am J Hum Genet. 1980]
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Kennaway NG, Weleber RG, Buist NR. Am J Hum Genet. 1980 Jul; 32(4):529-41.
Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. [J Clin Invest. 1980]
Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.
Valle D, Walser M, Brusilow SW, Kaiser-Kupfer M. J Clin Invest. 1980 Feb; 65(2):371-8.
Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6. [Br J Ophthalmol. 1981]
Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.
Hayasaka S, Saito T, Nakajima H, Takaku Y, Shiono T, Mizuno K, Ohmura K, Tada K. Br J Ophthalmol. 1981 Jul; 65(7):478-83.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

A specific enzyme defect in gyrate atrophy.
A specific enzyme defect in gyrate atrophy.
Am J Ophthalmol. 1978 Feb ;85(2):200-4.

PubMed
Friedreich's ataxia. A clinical review with neurophysiological and echocardiogra...
Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.
Arch Dis Child. 1984 Mar ;59(3):217-21.

PubMed
Ocular manifestations of group A Niemann-Pick disease.
Ocular manifestations of group A Niemann-Pick disease.
Am J Ophthalmol. 1978 Feb ;85(2):174-80.

PubMed
Zimeldine treatment of obsessive-compulsive disorder. Biological and neuropsycho...
Zimeldine treatment of obsessive-compulsive disorder. Biological and neuropsychological aspects.
Acta Psychiatr Scand. 1984 Mar ;69(3):259-61.

PubMed
Elastic properties of the cat soleus tendon and their functional importance.
Elastic properties of the cat soleus tendon and their functional importance.
J Physiol. 1984 Feb ;347:479-95.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: