Phenotype #0000010166

Individual ID 00011468
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 00y00m20d (20 days)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details newborn screening, macrocephaly, asymptomatic
Protein -
Biochem glutarylcarnitine(blood): 0.27 µM; glutarylcarnitine(urine): 14.5 mmol/mol creatinine; 3-OH-GA(urine): 176.3 mmol/mol creatinine (c: 2-15); GA(urine): 40 mmol/mol creatinine (c: 2-10)
Enzyme/Activity -
Owner name Svenja Wagner
Database submission license No license selected
Created by Svenja Wagner
Date created 2014-02-14 11:15:37 +01:00 (CET)
Date last edited 2014-04-03 12:53:48 +02:00 (CEST)

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