Amish, Mennonite, and Hutterite
Genetic Disorder Database

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 

Back