Alpha-mannosidosis: Difference between revisions
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'''α-mannosidosis''' is |
'''α-mannosidosis''' is an autosomal recessive [[genetic disorder]] that causes progressive mental and physical deterioration. A defective [[alpha-mannosidase|α-mannosidase]] [[enzyme]], which normally helps to break down complex [[sugar]]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, enzyme with low residual activity leads to mild phenotype with classic features of lysosomal storage disorders. |
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==External links== |
==External links== |
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Revision as of 22:22, 30 December 2007
| Alpha-mannosidosis | |
|---|---|
| Specialty | Endocrinology  |
α-mannosidosis is an autosomal recessive genetic disorder that causes progressive mental and physical deterioration. A defective α-mannosidase enzyme, which normally helps to break down complex sugars in the lysosome, causes sugar build up and impair cell function. Complete absence of functional enzyme leads to severe type with death within childhood, enzyme with low residual activity leads to mild phenotype with classic features of lysosomal storage disorders.
External links
Template:Endocrine, nutritional and metabolic pathology
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