Global Variome shared LOVD

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

Phenotype #0000155439 Individual ID 00207650 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 35y Phenotype/Onset - Phenotype details Symptoms: No intellectual problems or movement disorders, infancy and childhood uneventful apart from two hospital admissions during first year of life because of fainting (no cause found), sportive exercise intolerance, starting at age 30y increasing and disabling fatigue (HP:0012378)(diagnosed as "burnout"), excessive fatigue during pregnancy; MRI: Enlarged sylvian fissures; ECG and cardiac ultrasound: Normal (esp. no cardiomyopathy Protein - Biochem GA(urine):687µmol/mmol creatinine; 3-OH-GA(urine): clearly increased; Free carnitine(plasma):4.6µmol/L; Total carnitine(plasma):6.9µmol/L; glutarylcarnitine(plasma): 1.27µmol/L, Enzyme/Activity Undetectable (<1.0nmol/h.mg protein) (lymphocytes) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-27 08:47:11 +01:00 (CET) Date last edited N/A

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