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: | macrcoglossia, cardiomegaly, arrhythmia, respiratory failure, respiratory infections, diaphragmatic paralysis, muscle weakness, hypotonia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | GAA |
| Base Change: | G>C, at nucleotide 2238 |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Personal communication; seen at CSC. |
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