Alpha-mannosidosis
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Alpha-mannosidosis is a lysosomal storage disorder,[1] first described by Swedish physician Okerman in 1967.[2] In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[2][3][4] Consequently, if both parents are carriers, there will be a 25% chance with each pregnancy that the defective gene from both parents will be inherited, and the child will develop the disease. There is a two in three chance that unaffected siblings will be carriers (Figure 1).[4] In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed.[5]
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Alpha-mannosidosis | |
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Alpha-mannosidosis has an autosomal recessive pattern of inheritance Figure 1 | |
Specialty | Endocrinology |