Liver

Liver

CLINICAL PRESENTATION

This varies according to the organs involved. Enlarged abdomen, enlarged liver heart, growth retardation, hypoglycemic episodes may be present. Three subdivisions can be made on this basis:

Symptoms and signs may be present at birth or appear in early infancy with protuberant abdomen, hepatomegaly, stunted growth and a typical doll faces. Since glycogen cannot be converted into glucose by the liver readily, symptoms of hypoglycemia like irritability, convulsions or even coma may be the presenting symptoms in some patients.

Mildly affected patients reach adolescence and subsequently symptoms tend to abate. Others die early as a result of hypoglycemia or lactic acidosis.

Children also present with hepatomegaly at a later age, but symptoms of hypoglycemia are mild or absent. These children reach adulthood and some may have normal life span.