Phenotype #0000158973

Individual ID 00210408
Associated disease GKD
Phenotype details normal growth and development; glycerol plasma 4.1mmol, urine 58.2mmol, GK activity 22%
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset ketoacidosis, somnolence after vomiting, altered consciousness during gastrointestinal episodes
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen