Disease
Glycogenosis type Ic
Overview

Contributor: Gordon K. Klintworth
Glycogenosis type Ic (glycogen storage disease type Ic, OMIM # 232240)  is a subtype of  glycogenosis type I. This autosomal recessive disorder is due to a mutation in the G6PT1 gene. There is a defect in glucose-6-phosphate transporter involving the transport of inorganic phosphate in the microsomes. Glycogenosis type Ic is difficult to differentiate clinicaly from glycogenosis type Ib. The manifestations of glycogenosis type Ic are more severe than those of glycogenosis type Ia and include neutropenia and neutrophil dysfunction.