Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000015183 Individual ID 00016555 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details severe phenotpye; clinical onset: acute encephalopathy Protein - Biochem 3-OH-GA(urine): 340 mmol/mol creatinine (c:2-10 mmol/mol creatine), GA(urine): 1773 mmol/mol creatinine (c:2-14 mmol/mol creatinine) Enzyme/Activity GCDH activity (fibroblasts): <0.5 % of controls Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-05-05 11:15:50 +02:00 (CEST) Date last edited N/A

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