Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000166497 Individual ID 00218048 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 03y (3 years) Diagnosis/Definite - Age/Diagnosis 00y00m15d Phenotype/Onset - Phenotype details Acute metabolic decompensation at age 10m; Outcome: Ambulatory, feeds by mouth and G-tube (HP:0011471), verbal communication; MRI(after acute decompensation): subdural hematoma, temporal lobe atrophy, widened Sylvian fissures, elevated signal intensity in basal ganglia; MRI(follow-up): volume loss in basal ganglia; MRI(follow-up): volume loss in basal ganglia Protein - Biochem GA(urine): strongly elevated; 3-OH-GA(urine): elevated; glutarylcarnitine(NBS): 1.95µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-17 13:50:28 +01:00 (CET) Date last edited N/A

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