Glycogen storage disease type 3
The most common subtype, glycogen storage disease type IIIa, represents patients with affected liver and muscles. Common findings for Type IIIa include seizures, hepatomegaly, hypotonia, ketoacidosis, and hypoglycemia. Type IIIb is second most common, primarily affecting the liver. These patients present with hypotonia, hepatomegaly, short stature, abdominal distension, cardiomyopathy, and hypoglycemia. Very rarely will patients present with types IIIc or IIId, which are characterized by absent activity from either glucosidase or transferase debranching activities.
Patients must eat a special diet to maintain normal glucose levels.
E74.00 – Glycogen storage disease, unspecified
66937008 – Glycogen storage disease, type III
Differential Diagnosis & Pitfalls