Glycogen storage disease IV
| Disorder | |
|---|---|
| OMIM #: | #232500 (Click to access OMIM database) |
| Disorder: | Glycogen storage disease IV |
| Also known as: | GSD IV Glycogen branching enzyme deficiency Andersen disease Brancher deficiency Glycogenosis IV Amylopectinosis Cirrhosis, familial, with deposition of abnormal glycogen |
| Clinical | |
| Phenotype: | failure to thrive, splenomegaly, cirrhosis, portal hypertension, hepatomegaly, muscle weakness, muscle wasting, hypotonia, polyhydraminos |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | GBE1 |
| Base Change: | c.672_681del10insG |
| Amino Acid Change: | |
| 2 Old Order Mennonite | |
| Gene: | GBE1 |
| Base Change: | c.691+2T>C |
| Amino Acid Change: | splicing |
| Last updated: | 2022-11-04 |
| References |
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