Phenotype #0000155452

Individual ID 00207663
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 02y
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset Acute encephalopathy (HP:0006846) with residual neurological damage
Phenotype details Severely affected (dystonia (HP:0001276) and inability to walk (HP:0002540)); MRI: Cerebral atrophy, high signal intensitiy in both basal ganglia
Protein -
Biochem GA(urine):360mmol/mol creatinine; 3-OH-GA: 57.6mmol/mol creatinine; glutarylcarnitine(blood):4.7 µM
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-11-27 13:53:35 +01:00 (CET)
Date last edited 2018-11-27 14:03:18 +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.