About The Medical Condition Amylopectinosis
Find the definition of the medical term Amylopectinosis. Amylopectinosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Amylopectinosis
| Amylopectinosis Medical Condition |
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What's The Definition Of The Medical Condition 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.
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