Contributor: Gordon K. Klintworth
The glycogenoses (glycogen storage diseases) are inherited disorders of glycogen metabolism characterized by an intracytoplasmic storage of glycogen. More than 12 types are known (glycogenosis type Ia, glycogenosis type Ib, glycogenosis type Ic, glycogenosis type Id, glycogenosis type II, glycogenosis type IIb, glycogenosis type III, glycogenosis type IV, glycogenosis type V, glycogenosis type VI, glycogenosis type VII, and glycogenosis type VIII. With the exception of glycogenosis type IIb and glycogenosis type VIII (X-linked recessive disorders) these conditions all have an autosomal recessive mode of inheritance. Ocular abnormalities have only been recognized in glycogenosis type I and glycogenosis type II and these are mild and not well-documented.