Global Variome shared LOVD

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

Phenotype #0000014978 Individual ID 00016378 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details detected by newborn screening; wide sylvian fissures; abnormal caudate/putamen; dystonia; motor delay; walks with assistance Protein - Biochem glutarylcarnitine(blood): 0.35+/-0.25 µmol/l (c:0.0-0.7); 3-OH-GA(urine): 40+/-21 mmol/mol creatinine; GA(urine): 34+/-17 mmol/mol creatinine (high excretor: GA > 100mmol/mol creatinine) Enzyme/Activity - Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-03-31 13:34:48 +02:00 (CEST) Date last edited 2014-04-09 15:33:30 +02:00 (CEST)

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