Glycogen storage disease VI
| Disorder | |
|---|---|
| OMIM #: | #232700 (Click to access OMIM database) |
| Disorder: | Glycogen storage disease VI |
| Also known as: | GSD6 HERS disease Phosphorylase deficiency glycogen-storage disease of liver |
| Clinical | |
| Phenotype: | hepatomegaly, hypoglycemia, hyperlipidemia, growth deficiency, lethargy, irritability, weakness |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | PYGL |
| Base Change: | c.1620+1G>A |
| Amino Acid Change: | splicing defect |
| Last updated: | 2018-10-12 |
| References |
|---|
| Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. (1998) Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Human Mol. Genet. 7:865-870. PubMed ID: 9536091 |
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