GLYCOGEN STORAGE DISEASE TYPE II. JUVENILE ONSET | |
GSD2; GLYCOGENOSIS, TYPE IIB | |
232300
OMIM = Online Mendelian Inheritance of Men | |
420429 | |
lysosomal alpha-1,4-glucosidase | |
3.2.1.3 | |
17q25.3 |
|
E74.0 | |
rare (1:100000 ) autosomal recessive mutation in the GAA gene 1) infantile onset: cardiomegaly, progressive weakness, macroglossia 2) juvenile onset: (cardiac involvement), slower progression 3) adult onset: slowly progressive myopathy | |
Laboratory findings | alpha-1,4-Glucosidase dec () alpha-Glucosidase dec (fibroblasts) alpha-Glucosidase dec (muscle) |
Symptoms | cardiomyopathy hepatomegaly (large liver) hypotonia onset, adulthood onset, childhood onset, infancy pneumonia progressive muscle defect respiratory insufficiency |