Andersen disease: An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition. More detailed information about the symptoms, causes, and treatments of Andersen disease is available below.
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Types of Andersen disease
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An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. - (Source - Diseases Database)
Andersen disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Andersen disease, or a subtype of Andersen disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Andersen disease as a "rare disease".
Source - Orphanet
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