Glycogen storage disease type VIII
Glycogen storage disease type VIII (GSD VIII) is a rare genetic disorder that affects the body's ability to break down glycogen in the liver. It is one of the many types of Glycogen storage disease (GSD), a group of inherited metabolic disorders that affect the processing of glycogen.
Overview[edit | edit source]
GSD VIII is caused by mutations in the Phosphorylase kinase (PHKA) gene. This gene provides instructions for making an enzyme that is involved in the breakdown of glycogen. When the PHKA gene is mutated, the enzyme's activity is reduced or absent, leading to the accumulation of glycogen in the liver.
Symptoms[edit | edit source]
The symptoms of GSD VIII typically begin in infancy or early childhood. They can include Hypoglycemia (low blood sugar), Hepatomegaly (enlarged liver), growth delay, and sometimes, mild Muscle weakness.
Diagnosis[edit | edit source]
Diagnosis of GSD VIII is based on the symptoms, a physical examination, and specialized tests that can measure the amount of glycogen in the liver and the activity of the PHKA enzyme. Genetic testing can also be used to identify mutations in the PHKA gene.
Treatment[edit | edit source]
There is currently no cure for GSD VIII. Treatment is focused on managing the symptoms and preventing complications. This can include a special diet to maintain stable blood sugar levels, medications to manage symptoms, and in some cases, liver transplantation.
Prognosis[edit | edit source]
The prognosis for individuals with GSD VIII varies. Some individuals have a mild form of the disease and live into adulthood, while others have a more severe form and may experience serious complications.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Glycogen storage disease type VIII is a rare disease.
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