Glycogen Storage Disease Type Ia

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the G6PC gene, encoding glucose-6-phosphatase. It is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. Adults may have a high incidence of hepatic adenomas.

**Synonyms:** - GSD1A - Glucose-6 Phosphatase Deficiency - Hepatorenal Glycogenosis - Von Gierke Disease