Alpha-mannosidosis: Difference between revisions
No edit summary |
No edit summary |
||
| Line 13: | Line 13: | ||
MeshNumber = C16.320.565.202.607.500 | |
MeshNumber = C16.320.565.202.607.500 | |
||
}} |
}} |
||
'''α-mannosidosis''' is an autosomal recessive [[genetic disorder]] that causes mental and physical deterioration. A defective [[alpha-mannosidase|α-mannosidase]] [[enzyme]], which normally helps to break down complex [[sugar]]s from [[glycoprotein]]s in the [[lysosome]], causes sugar build up and impair [[cell (biology)|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. |
'''α-mannosidosis''' is an autosomal recessive [[genetic disorder]] that causes mental and physical deterioration. A defective [[alpha-mannosidase|α-mannosidase]] [[enzyme]], which normally helps to break down complex [[sugar]]s derived from [[glycoprotein]]s in the [[lysosome]], causes sugar build up and impair [[cell (biology)|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== |
==External links== |
||
* [http://www.mannosidosis.org/alphaman/amanclinic.htm mannosidosis.org] |
* [http://www.mannosidosis.org/alphaman/amanclinic.htm mannosidosis.org] |
||
Revision as of 22:34, 30 December 2007
| 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 derived 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
Template:Endocrine, nutritional and metabolic pathology
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |