Am J Hum Genet. 1978 Mar;30(2):174-9.

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Shih VE, Berson EL, Mandell R, Schmidt SY.

Abstract

Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five affected patients showed a virtual absence of ornithine ketoacid transaminase (OKT) (L-ornithine:2-oxoacid aminotransferase E.C.2.6.1.13) activity. Fibroblasts from four carrier parents showed a 42%-65% reduction in OKT activity. Increasing the concentration of pyridoxal phosphate (vitamin B6 in the assay media resulted in partial restoration of OKT activity in fibroblasts from one out of five patients studied. We conclude that OKT deficiency is closely associated with the genetic defect in gyrate atrophy of the choroid and retina and that genetic heterogeneity exists in this disease.

PMID:: 655164; [PubMed - indexed for MEDLINE]
PMCID:: PMC1685558

Free PMC Article

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina. [Am J Hum Genet. 1988]
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.
Shih VE, Mandell R, Berson EL. Am J Hum Genet. 1988 Dec; 43(6):929-33.
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 choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency. [Int Ophthalmol. 1978]
Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency.
Deutman AF, Sengers RC, Trybels JM. Int Ophthalmol. 1978 Sep; 1(1):49-56.
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 Gyrate atrophy of the choroid and retina. [Prog Clin Biol Res. 1982]
Review Gyrate atrophy of the choroid and retina.
Valle D, Kaiser-Kupfer M. Prog Clin Biol Res. 1982; 82:123-34.

See reviews... See all...

Cited by 17 PubMed Central articles

Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine. [J Clin Invest. 1980]
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
Sipilä I, Simell O, Arjomaa P. J Clin Invest. 1980 Oct; 66(4):684-7.
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.

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.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
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.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and ...
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Am J Hum Genet. 1978 Mar ;30(2):174-9.

PubMed
[Comparative studies of renosonography and intravenous pyelography prior to and ...
[Comparative studies of renosonography and intravenous pyelography prior to and following hysterectomy].
Geburtshilfe Frauenheilkd. 1983 Feb ;43(2):97-9.

PubMed
Four year follow-up of black schoolchildren with non-ejection systolic clicks an...
Four year follow-up of black schoolchildren with non-ejection systolic clicks and mitral systolic murmurs.
Am Heart J. 1978 Jun ;95(6):697-701.

PubMed
Incidence of postextraction bacteremia under penicillin cover in children with c...
Incidence of postextraction bacteremia under penicillin cover in children with cardiac disease.
Pediatrics. 1983 Apr ;71(4):554-8.

PubMed
Neuropathic arthropathy in the diabetic foot.
Neuropathic arthropathy in the diabetic foot.
Am Fam Physician. 1978 May ;17(5):105-13.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 17 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information