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 InternationalCreative Commons License
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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