Glycogen storage disease type IX
Encyclopedia
Glycogen storage disease type IX is a form of glycogen storage disease
. It is now reclassified to lie within the scope of glycogen storage disease type VI
.
It is associated with PHKA2
, on the X chromosome
.
Glycogen storage disease
Glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes...
. It is now reclassified to lie within the scope of glycogen storage disease type VI
Glycogen storage disease type VI
Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.It is also known as "Hers' disease", after Henri G...
.
It is associated with PHKA2
PHKA2
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.-External links:*...
, on the X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
.
External links
- GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX
- http://www.agsdus.org/html/typeix.htm