glycogen storage disease type-IX

Hepatomegaly, occasional fasting hypoglycemia. Normal to poor response of plasma glucose to IM glucagon.

Specific

glycogen storage disease type-IXc (autosomal liver glycogenosis) glycogen storage disease type-IXd (X-linked muscle glycogenosis)

Properties

DEFICIENT-PROTEIN: phosphorylase kinase COMPARTMENT: cytoplasm STATE: active state MOTIF: S/T-phosphate kinase domain MOTIF: ATP-binding site NAME: ATP-binding site calmodulin binding site EFFECTOR-BOUND: calmodulin

References

Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 185