Дефіцит гліцеролкінази, ювенільна форма
ORPHA:284411· ICD-10 E74.8· Glycerol kinase deficiency, juvenile form
Визначення(English summary)
Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.
- Успадкування
- X-linked recessive
- Вік початку
- Adolescent, Childhood