Alpha-mannosidosis
Lysosomal storage disease, alpha-Mannosidase, Livestock, Swainsonine
978-620-0-75017-4
6200750173
60
2012-02-27
29,00 €
eng
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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase (see Alpha-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 (see Locoweed).A defective α-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 functional enzyme leads to death during early childhood due to deterioration of the central nervous system. Enzyme with low residual activity leads to a milder type of the disease, with symptoms like reduced hearing, mental retardation, susceptibility to bacterial infections and skeletal deformities. The course of the disease is progressive.
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