Phenotype #0000144049

Individual ID 00183309
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 30y (30 years)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Mildly affected, Symptoms: Physical and neurological examination normal, IQ borderline; Neuroimaging: Patchy signal changes in corpus callosum with contrast enhanced wart-like mass lesions (extending from ependymal lining into lateral ventricles) reminiscent of subependymal nodules in tuberous sclerosis (patient showed no cutaneous stigmatat of tuberous sclerosis, nature & significance remains uncertain)
Protein -
Biochem GA(urine):728mmol/mol creatinine; 3-OH-GA(urine):49mmol/mol creatinine; plasma free carnitine:4,7µmol/L; total carnitine:7,9µmol/L; glutarylcarnitine(blood):1,01µmol/L
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-10-22 17:19:43 +02:00 (CEST)
Date last edited 2018-11-22 10:51:56 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.