Global Variome shared LOVD

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Phenotype #0000309055 Individual ID 00417584 Associated disease GACR;OATD Phenotype details pyridoxine HCI mg/day 0; serum omithine mg/day: 0.57 +/- 0.02; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.25 +/- 0.01; OAT activity (nmol/mg protein/h): 18+/- 4; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 31 +/- 11; 1.0mg/l pyridoxine in medium: 268 +/- 34; skin fibroblasts Km pyridoxal phosphate: 0.13; skin fibroblasts estimated OAT mRNA level (%): 100 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-20 13:02:56 +02:00 (CEST) Date last edited N/A

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