Ornithine aminotransferase deficiency
http://dbpedia.org/resource/Ornithine_aminotransferase_deficiency an entity of type: Thing
Per atrofia girata della coroide e della retina in campo medico, si intende una rara malattia autosomica recessiva, spesso correlata ad altre malattie metaboliche come nel caso del deficit di ornitina aminotransferasi (tipo I e tipo II). Essa produce danni irreparabili alle componenti dell’occhio quali la coroide e retina; il fattore scatenante di tale malattia è l'accumulo dell’amminoacido ornitina. È importante che la malattia sia diagnosticata al più presto nei bambini in quanto, con la dovuta alimentazione, possa venire trattata in tempo.
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Die Atrophia gyrata der Chorioidea und Retina ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Netzhautdystrophie mit fortschreitender Atrophie der Netz- und Aderhaut, Kurzsichtigkeit und frühzeitigem Auftreten einer Katarakt. Synonyme sind: HOGA; Hyperornithinämie; Hyperornithinämie - Atrophia gyrata der Aderhaut und Netzhaut; Ornithin-Aminotransferase-Mangel; englisch Gyrate atrophy of the choroid and retina; GACR Die Erstbeschreibung des Krankheitsbildes stammt aus dem Jahre 1896 durch .
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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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Atrophia gyrata der Chorioidea und Retina
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Atrofia girata della coroide e della retina
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Ornithine aminotransferase deficiency
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Ornithine aminotransferase deficiency
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Ornithine aminotransferase deficiency
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36812289
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1048873909
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258870
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Gyrate atrophy
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Die Atrophia gyrata der Chorioidea und Retina ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Netzhautdystrophie mit fortschreitender Atrophie der Netz- und Aderhaut, Kurzsichtigkeit und frühzeitigem Auftreten einer Katarakt. Synonyme sind: HOGA; Hyperornithinämie; Hyperornithinämie - Atrophia gyrata der Aderhaut und Netzhaut; Ornithin-Aminotransferase-Mangel; englisch Gyrate atrophy of the choroid and retina; GACR Die Erstbeschreibung des Krankheitsbildes stammt aus dem Jahre 1896 durch . Der Zusammenhang mit dem Enzymdefekt des Ornithin-Stoffwechsels wurde von den finnischen Augenärzten O. Simell und K. Takki im Jahre 1973 hergestellt.
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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. Research suggests there can be some adverse effect on muscles and also the brain. The cause of this is somewhat unclear but may relate to very low levels of creatine often found in this population. Treatment may include vitamin B6, lysine or dramatic dietary change to minimise arginine from patients diet. Research has indicated that these treatments may be somewhat effective in lowering ornithine blood concentration levels in some patients, either in combination or individually. Vitamin B6 has been found to be very effective in a small proportion of patients.
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Per atrofia girata della coroide e della retina in campo medico, si intende una rara malattia autosomica recessiva, spesso correlata ad altre malattie metaboliche come nel caso del deficit di ornitina aminotransferasi (tipo I e tipo II). Essa produce danni irreparabili alle componenti dell’occhio quali la coroide e retina; il fattore scatenante di tale malattia è l'accumulo dell’amminoacido ornitina. È importante che la malattia sia diagnosticata al più presto nei bambini in quanto, con la dovuta alimentazione, possa venire trattata in tempo.
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6016
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258870