Glycogenosis type IV. Brancher enzyme deficiency. (Amilo-1,4---1,6-transglucosydase deficiency).
Incidence
AR inheritance
Clinical Characteristics
This form shows generalized, predominantly hepatic involvement. Muscle involvement may be the major clinical feature, with weakness and pseudohypertrophy. Hypotonia is important, weakness & muscular wasting. Failure to thrive (FTT) may be important. Hepatosplenomegaly, liver failure & cirrhosis usually appear in the first 6 months of life. Poor motor & social development. Mild forms may occur. Depressed or absent DTRs.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W