Definition:
Glycogen storage disease type VI, also known as Hers disease, is a glycogen storage disease (GSD) characterized by a liver glycogen phosphorylase deficiency. It is also one of the less severe forms of all GSDs.
Diagnosis:
An enzyme assay and liver biopsy are standard in diagnosing this type of GSD. Histological examinations are also performed, as well as determination of glycogen.
Treatment:
Diet management is the most effective treatment for this type of GSD. For patients who suffer from fasting hypoglycemia, frequent feedings and a diet high in carbohydrates is effective. Some patients are also treated by supplementing their diet with unsaturated fats, and high-protein diets. However, a number of patients also require no dietary intervention.
Patients who have significant hepatomegaly must avoid contact sports.
Symptoms and Signs:
Symptoms include growth retardation, prominent heptomegaly, mild fasting hypoglycemia and hyperketosis. Patients may also exhibit hyperlipidemia, muscle weakness, hypotonia, and increased serum transaminases. However, these biochemical defects may disappear upon puberty. Rare cases exhibit symptoms such as myopathy, renal tubule acidosis, and fatal cardiomyopathy.
Liver enlargement is common, but will decrease in size as the patient ages.
Causes:
The condition is an inherited autosomal recessive disease. Both parents of the patient must be carriers in order to inherit the disease.
:
glycogenstoragediseasetypevi
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