Glycogenosis type III. Forbes disease. Infantile type. Debrancher deficiency. (Amilo-1,6-glucosidase and/or oligo-1,4 --- 1,4-glucantransferase deficiency).
Incidence
AR inheritance
Clinical Characteristics
This form shows predominantly hepatic involvement. In some families, muscle involvement may be the major clinical feature, with weakness and pseudohypertrophy. Hypoglycemia, convulsions due to hypoglycemia, weakness & muscular wasting. It usually manifest in first few months of life. They have hypoglycemia & FTT & hepatomegaly. They are hypotonic, weak cry, poor head control. Cardiomyopathy may be present. May looks like Von Gierke disease but milder..
Precipitants
Fasting precipitate crisis with hypoglycemia.
Provocation Tests
none
Diagnostic Procedures
EB-liver, EB-muscle, EB-W, EB-F Hyperuricemia is common. Abnormal EMG with pseudomyotonic discharges. High CPK