Phenotype #0000000368

Individual ID 00000936
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details At age 02y06m: mild developmental delay (HP:0011342) but no neurological signs;
At age 03y: acute encephalopathic crisis ("Reye syndrome-like condition") (HP:0006846) during mild intercurrent illness with following dystonic quadriparesis (HP:0002273); CT: diffuse cortical atrophy, pronounced fronto-temporal atrophy, white matter hypodensities, loss of caudate nuclei
Protein -
Biochem GA(urine): excessively increased; carnitine(serum): marked deficiency
Enzyme/Activity -
Owner name Katrin Hinderhofer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-04-17 17:21:21 +02:00 (CEST)
Date last edited 2025-01-08 14:15:44 +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.