Global Variome shared LOVD

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

Phenotype #0000000577 Individual ID 00001145 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y06m Diagnosis/Initial - Age/Examination 00y06m (6 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details developmental regression with poor head control Protein - Biochem glutarylcarnitine(urine): 13.7 mmol/mol creatinine; 3-OH-GA(urine): 669 mmol/mol creatinine; GA(urine): 9097 mmol/mol creatinine; GA(blood): 46 µmol/l Enzyme/Activity GCDH activity (fibroblasts): 3.7% of controls Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2013-12-13 14:57:19 +01:00 (CET)

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