Glycogen Storage Disease Type III

Glycogen Storage Disease Type III [AGL]: An autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzymedeficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb). Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy.

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