Phenotype #0000015206

Individual ID 00016578
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details severe phenotype; clinical onset: acute encephalopathy
Protein -
Biochem 3-OH-GA(urine): 101 mmol/mol creatinine (c:2-10 mmol/mol creatine), GA(urine): 48 mmol/mol creatinine (c:2-14 mmol/mol creatinine)
Enzyme/Activity GCDH activity (fibroblasts): 0.8 % of controls
Owner name Svenja Wagner
Database submission license No license selected
Created by Svenja Wagner
Date created 2014-05-07 12:22:56 +02:00 (CEST)
Date last edited N/A

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