Glycogenosis type III. Forbes disease. Adult type. Debrancher deficiency. (Amilo-1,6-glucosidase and/or oligo-1,4 --- 1,4-glucantransferase deficiency).
Incidence
Rare. AR inheritance.
Clinical Characteristics
This form shows predominantly muscle involvement. Muscle involvement may be the major clinical feature, with weakness and pseudohypertrophy. Hypoglycemia does not occur. Weakness & muscular wasting. Protuberant abdomen in childhood. It occur in older children and adults. Behave as a chronic progressive myopathy. Cardiac involvement may occur.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-muscle, EB-F. Hyperuricemia is common. High CPK. Abnormal EMG.