RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164071050
T1 Glycogen Storage Disease Type II
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164071050
RD 2023/05/31
AB Inborn  error  of  metabolism  that  results  from  the  deficiency  of  acid  alpha-glucosidase,  a  lysosomal  hydrolase.  The  three  variants  are  infantile,  juvenile,  and  adult  onset.  In  the  classic  infantile  form  (Pompe  disease),  severe  hypertrophic  cardiomyopathy,  and  muscular  hypotonia  are  the  cardinal  features.  In  the  juvenile  and  adult  forms,  involvement  of  skeletal  muscles  (progressive  muscular  hypotonia)  and  respiratory  failure  dominates  the  clinical  presentation.