Glycogenosis type III. Forbes disease. Childhood type. Debrancher deficiency. (Amilo-1,6-glucosidase and/or oligo-1,4 --- 1,4-glucantransferase deficiency).
Incidence
Very rare. One case reported
Clinical Characteristics
This form shows predominantly muscle involvement. Muscle involvement may be the major clinical feature, with weakness & muscular wasting. Also cardiac involvement seen with heart failure.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-muscle, EB-F. Hyperuricemia is common. Abnormal EMG, high CPK,