Glycogen storage disease type I (GSD-I); GSD-Ia (MIM232200); GSD-Ib (MIM232220)
Definition and Characteristics
Von Gierke disease is a group of autosomal recessive disorders of glucose metabolism. The primary defect is in the impaired conversion of glucose-6-phosphate (G6P) to glucose and phosphate due to mutation of either glucose-6-phosphatase-α (G6Pase-α, synonym G6PC) in GSD-Ia, or the G6P transporter (G6PT, synonym SLC37A4) in GSD-Ib . Only a single G6Pase activity, expressed primarily in the liver, kidney and intestine , was known until 2003 when a second ubiquitous G6P hydrolase activity was identified. The original G6Pase is now designated G6Pase-α, the second, G6Pase-β (synonym G6PC3). G6Pase-β is not currently implicated in von Gierke disease, although it impacts glucose metabolism in neutrophils. GSD-I patients manifest fasting hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, lactic acidemia, and growth...