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There is now strong evidence that the chorioretinal degeneration associated with ornithine-delta-aminotransferase (OAT) deficiency is a consequence of hyperornithinemia. Therefore development of a metabolic system for clearing ornithine from the circulation is being pursued as a potential treatment.
The influence of intravitreal injection of a small amount of l-ornithine hydrochloride in monkey eyes has been investigated morphologically. In a previous paper, the author demonstrated that acute selective damage was caused in the retinal pigment epithelium (RPE) by ornithine. This paper will
Mature olfactory neurons are continually replaced from a population of progenitor cells. Olfactory nerve section, bulbectomy, or treatment with certain chemicals induces degeneration of olfactory neurons followed in some cases by regeneration. Ornithine decarboxylase (ODC) activity was measured in
We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the
Gyrate atrophy of the retina and choroid is an autosomal recessive progressive retinal degeneration caused by an inborn error of metabolism of ornithine aminotransferase activity. Some cases are metabolically treatable. Carrier testing and prenatal diagnosis by amniocentesis are possible.
A sensitive and convenient radioisotopic assay for ornithine aminotransferase (OAT) and an enzyme immunoassay for human ornithine aminotransferase were developed for studying decrease in activity of this enzyme in gyrate atrophy of the choroid and retina with hyperornithinemia. Picogram amounts of
Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithinemia. We and others have reported a number of missense
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT: EC 2.6.1.13), is the hallmark of gyrate atrophy (GA), a hereditary degenerative disease of the choroid and retina of the eye that leads to blindness. A human OAT cDNA, previously constructed and characterized in
Gyrate atrophy of the choroid and retina is an autosomal recessive disease associated with reduced or absent ornithine aminotransferase (OAT) activity. To approach the defect in OAT at the molecular level, we have cloned a cDNA for the mRNA encoding the OAT precursor from human liver. The clone
A cDNA probe (HOAT1) for ornithine aminotransferase (OAT) has recently been used to map (1) the structural gene for this enzyme to chromosome 10 and (2) several related DNA sequences to the X chromosome. We have defined six RFLPs for OAT, to explore its possible role in gyrate atrophy (GA) of the
OBJECTIVE
To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecular
Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment
Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of
Gyrate atrophy is a hereditary chorioretinal degenerative disease caused by a deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT). Recent investigations have demonstrated the molecular genetic defects of OAT in gyrate atrophy patients. We constructed a eukaryotic expression
Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at