Phenotype #0000000560

Individual ID 00001128
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y09m
Diagnosis/Initial -
Age/Examination 15y03m15d (15 years, 3 months, 15 days)
Diagnosis/Definite -
Age/Diagnosis 00y00m07d
Phenotype/Onset -
Phenotype details Initially asymptomatic, At age 09m: encephalopathic crisis (HP:0006846) during gastroenteritis due to >24h delayed emergency treatment --> Severe movement disorder with dystonia (HP:0001276), minor motor symptoms; Neuroimaging (at 09m): Striatal injury
Protein -
Biochem Newborn screening: glutarylcarnitine:2.77µmol/l, urinary organic acid analysis: high excretor
Enzyme/Activity Residual activity: 1%
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 2019-02-12 12:28:40 +01:00 (CET)

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