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Glycogen Storage Disease Type Ia (Von Gierke)

Prevalence: 1/100000
metabolic
Official·OMIM:232200Official·ORPHA364

Glucose-6-phosphatase deficiency due to G6PC1 gene mutations.

Associated Genes

G6PC1Glucose-6-Phosphatase Catalytic Subunit 1
Chromosome 17Autosomal Recessive