A new variant of type IV glycogenosis: Deficiency of branching enzyme activity without apparent progressive liver disease
Harry L. Greene, Barbara I. Brown, Daniel T. McClenathan, Rocco M. Agostini, Suzanne R. Taylor – 1 March 1988 – Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 5‐year‐old boy who, following an acute febrile illness at 2 years of age, was first noted to have hepatomegaly with mildly elevated serum transaminase levels.