Glycogen storage disease type IX

Updated on Dec 17, 2024

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ICD-10 E74.09

GeneReviews Phosphorylase Kinase Deficiency

Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and/or muscle. It is inherited in an X-linked or autosomal recessive manner.

Symptoms/signs

Among the symptoms (and signs) one finds in glycogen storage disease are(usually most diminish as adulthood sets in):

Hepatomegaly

Growth retardation

Motor development delay(mild)

Hyperketotic hypoglycemia

Hypotonia

Genetics

In terms of genetics, glycogen storage disease type IX can be inherited via:

X-linked recessive inheritance due to mutations at either PHKA1 or the PHKA2(most common) gene

Autosomal recessive could be the inheritance pattern for an affected individual when the genes PHKB or PHKG2 have a mutation.

Diagnosis

The diagnosis of glycogen storage disease IX consists of the following:

CBC

Urinalysis

Histological study of the liver (via biopsy)

Genetic testing

Physical exam

Types

There are two types of this inherited condition, glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the hepatic organ of an individual Mutations in PHKA2 have been seen in individuals with glycogen storage disease IXa2

Management

In terms of management for GSD IX, one finds the following to be medically useful methods:

Nutritionist (metabolic)

Physical therapist

Exercise (moderate not excessive)

Glucose bolus (for hypoglycemia)

References

Glycogen storage disease type IX Wikipedia

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