Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles. More detailed information about the symptoms, causes, and treatments of Forbes disease is available below.
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Prognosis for Forbes disease: Some patients only suffer liver problems whereas other patients develop muscle problems as well. Symptoms tend to improve by adulthood unless liver and muscle problems develop.
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An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent. - (Source - Diseases Database)
Forbes disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Forbes disease, or a subtype of Forbes disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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