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| Alpha-mannosidosis ： ウィキペディア英語版 |
Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase. In humans it is known to be caused by an autosomal recessive genetic mutation. In livestock it is caused by chronic poisoning with swainsonine from locoweed.
==Pathophysiology==
A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome, causes sugar build up and impairs cell function. Complete absence of functionality in this enzyme leads to death during early childhood due to deterioration of the central nervous system. Enzymes with low residual activity lead to a milder type of the disease, with symptoms like reduced hearing, mental disabilities, susceptibility to bacterial infections, and skeletal deformities. The course of the disease is progressive.
Alpha-mannosidosis is classified into types I through III based on severity and age of onset. In contrast to the usual classifications scheme of these disorders, type III is the most severe.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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