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Amylopectinosis (medical condition): 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.
See also:
Andersen disease:
»Introduction: Andersen disease
»Symptoms of Andersen disease
Amylopectinosis: glycogenosis type 4 [amylopectin + G. -osis, condition]
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Amylopectinosis: 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
Amylopectinosis is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Amylopectinosis, or a subtype of Amylopectinosis,
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 if affects 1 person per 2,000.
They list Amylopectinosis as a "rare disease".
Source - Orphanet
Amylopectinosis: Another name for Andersen disease (or close medical condition association).
»Introduction: Andersen disease
»Symptoms of Andersen disease
Some of the symptoms of Amylopectinosis incude:
See full list of 12 symptoms of Amylopectinosis (Andersen disease)
These medical disease topics may be related to Amylopectinosis:
Source: Diseases Database
Source - NIH
Source: CRISP
Source: Diseases Database
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