Glycerol kinase deficiency, juvenile form
ORPHA:284411· ICD-10 E74.8
Definition
Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood