Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
ORPHA:713· ICD-10 E74.0
Definition
A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood