Phenotype #0000000611

Individual ID 00001179
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 00y08m (8 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details MRI: Enlargement of the frontotemporal subarachnoid space with opening of the Sylvian fissures, selective atrophy in this region, strong signal in the basal ganglia, bilateral cerebral demyelination
Protein -
Biochem glutarylcarnitine(blood): 0.120 µM (c:<0.13); glutarylcarnitine(urine): 7.22 mmol/mol creatinine (c:<1.90); 3-OH-GA(urine): 18 mmol/mol creatinine (c:2.15); GA(urine): 17 mmol/mol creatinine (c:2-10)
Enzyme/Activity -
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 2013-12-20 15:24:33 +01:00 (CET)

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