Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Definition
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
Also known as G6P deficiency type 1a, G6PC glycogen storage disease, glycogen storage disease caused by mutation in G6PC, glycogen storage disease due to G6P deficiency type Ia, glycogen storage disease type 1a, glycogen storage disease type Ia, glycogenosis due to glucose-6-phosphatase deficiency type 1a, glycogenosis due to glucose-6-phosphatase deficiency type Ia, glycogenosis type Ia, GSD due to G6P deficiency type 1a, GSD due to G6P deficiency type Ia, GSD type 1a, GSDIa — per MONDO