Glycogenosis type VI. Hers disease. Liver phosphorylase.
Incidence
Rare. AR inheritance. Defect is located in chromosome 14.
Clinical Characteristics
Hypoglycemia. Growth retardation, hepatomegaly, ketosis. There is no muscle involvement nor cardiac problems. No specific neurological symptoms..
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-liver