Phenotype #0000000578

Individual ID 00001146
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y01m
Diagnosis/Initial -
Age/Examination 05y06m (5 years, 6 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details hypotonic, neurologically normal
Protein -
Biochem glutarylcarnitine(urine): 69.0 mmol/mol creatinine; 3-OH-GA(urine): 245 mmol/mol creatinine; GA(urine): 834 mmol/mol creatinine
Enzyme/Activity GCDH activity (fibroblasts): 21.8% 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 14:28:12 +01:00 (CET)

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