Alpha-mannosidosis

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

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.

[edit] Genetic prevalence

Alpha-mannosidosis has an autosomal recessive pattern of inheritance.
Alpha-mannosidosis has an autosomal recessive pattern of inheritance.

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

[edit] External links

v • d • e
Inborn error of carbohydrate metabolism - Lysosomal storage diseases: glycoprotein metabolic pathology - Glycoproteinosis, including mucolipidosis (E77, 272.7)
Post-translational modification
of lysosomal enzymes
Glycoprotein degradation
Other
see also enzymes
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