Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
What is Glycogen storage disease due to phosphoglycerate kinase 1 deficiency?
A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Other condition names
- GSD due to phosphoglycerate kinase 1 deficiency
- Glycogenosis due to phosphoglycerate kinase 1 deficiency
Inheritance type
X-linked recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
- Childhood
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