Glycogenosis type VIII. Phosphorylase B kinase (PBK) deficiency.
Incidence
Uncommon disease. Two forms reported. AR inheritance, benign form, and an X-linked form more severe.
Clinical Characteristics
Almost always begins in infancy or childhood. The AR form has weakness and hepatomegaly, with ketonuria with fasting and intermittent diarrhea may be prominent. The X-linked form has heart failure in early infancy.
Precipitants
Fasting may trigger ketotic hypoglycemia.
Provocation Tests
no
Diagnostic Procedures
EB-liver, EB-RBC