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Alpha-mannosidosis




Alpha-mannosidosis
Classification & external resources
ICD-10 E77.1
ICD-9 271
OMIM 248500
DiseasesDB 31422
MeSH C16.320.565.202.607.500

Additional recommended knowledge

Alpha-mannosidosis is an autosomal recessive metabolic disorder that causes mental and physical deterioration. A defective α-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome, causes sugar build up and impair cell function.

Complete absence of functional enzyme leads to death during early childhood due to detorioration of the central nervous system. Enzyme with low residual activity leads to a milder type of the disease, with symptoms like reduced hearing, mental retardiation, susceptibility to bacterial infections and skeletal deformities. The course of the disease is progressive.

Genetic prevalence

 

The worldwide incidence of alpha-mannosidosis is in the range of 1 per 500,000 to 1 per 1,000,000.

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Alpha-mannosidosis". A list of authors is available in Wikipedia.
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