| Glycogen storage disease IX | |
|---|---|
 | |
| Glycogen structure | |
| Symptoms | Enlarged liver [1] |
| Causes | Mutations in PHKA1, PHKA2, PHKB, or PHKG2 genes [2] |
| Diagnostic method | CBC, Urinalysis [1] [3] |
| Treatment | Physical therapy, follow metabolic nutritionist [1] |
Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner. [1]
The signs and symptoms in glycogen storage disease type IX include: [1]
Most of these signs and symptoms diminish as adulthood sets in. [1]
Glycogen storage disease type IX can be inherited via: [2] [4]
The diagnosis of glycogen storage disease IX consists of the following: [1] [3]
There are two types of this inherited condition, glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the liver of an individual. [6] Mutations in PHKA2 have been seen in individuals with glycogen storage disease IXa2.[ medical citation needed ]
The management of Glycogen storage disease IX requires treatment of symptoms by frequent intake of complex carbohydrates and protein to combat the low blood sugar. A nutritionist will advise on suitable diets. Liver function is regularly monitored and problems managed as they arise. However, liver problems have only been successfully treated by a transplant. Routine checks of metabolism are needed to ensure blood sugar (glucose) and ketones are managed. Regular moderate exercise is beneficial, although over-vigorous exercise is to be avoided, especially in those with enlarged livers. [1] [7]
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