Alpha-mannosidosis

Alpha-mannosidosis
Specialty	Endocrinology

α-mannosidosis is an autosomal recessive genetic disorder that causes mental and physical deterioration. A defective α-mannosidase enzyme, which normally helps to break down complex sugars from glycoproteins in the lysosome, causes sugar build up and impair cell function. Complete absence of functional enzyme leads to severe type with death within childhood by detorioration of the nentral nervous system. Enzyme with low residual activity leads to milder phenotype with symptoms like blindness, mental retardiation, susceptibility to bacterial infections and sceletal deformations. The course of the disease is progressive.

External links

• mannosidosis.org
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