Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glycogen storage disease II

Disorder
OMIM #: #232300  (Click to access OMIM database)
Disorder: Glycogen storage disease II 
Also known as: GSD II
ACID ALPHA-GLUCOSIDASE DEFICIENCY GAA DEFICIENCY POMPE DISEASE GLYCOGENOSIS, GENERALIZED, CARDIAC FORM CARDIOMEGALIA GLYCOGENICA DIFFUSA ACID MALTASE DEFICIENCY
AMD ALPHA-1,4-GLUCOSIDASE DEFICIENCY  
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: GAA
Base Change: G>C, at nucleotide 2238
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

Back