Ornithine aminotransferase deficiency
Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner. Approximately 200 known cases have been reported in the literature. The incidence is highest in Finland, estimated at 1:50,000.
Cerebral creatine deficiencyElectroretinographyEye diseaseFinnish heritage diseaseGyrate atrophyGyrate atrophy of the choroid and retinaGyrate atrophy of the retinaIminoglycinuriaList of MeSH codes (C11)List of MeSH codes (C16)List of diseases (G)List of diseases (O)Ornithine aminotransferaseOrnithine transcarbamylase deficiencyOrnithine translocase deficiency
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Ornithine aminotransferase deficiency
Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner. Approximately 200 known cases have been reported in the literature. The incidence is highest in Finland, estimated at 1:50,000.
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Die Atrophia gyrata der Chorio ...... kki im Jahre 1973 hergestellt.
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Ornithine aminotransferase def ...... small proportion of patients.
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Per atrofia girata della coroi ...... ossa venire trattata in tempo.
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36,812,289
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996,009,394
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Ornithine aminotransferase deficiency
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synonyms
Gyrate atrophy
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Die Atrophia gyrata der Chorio ...... mmt aus dem Jahre 1896 durch .
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Ornithine aminotransferase def ...... inland, estimated at 1:50,000.
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Per atrofia girata della coroi ...... ossa venire trattata in tempo.
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Atrofia girata della coroide e della retina
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Atrophia gyrata der Chorioidea und Retina
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Ornithine aminotransferase deficiency
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Ornithine aminotransferase deficiency
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