alpha-mannosidosis

(redirected from Lysosomal alpha-D-mannosidase deficiency)

alpha-mannosidosis

alpha-mannosidosis

An autosomal recessive lysosomal storage disease (OMIM:248500) caused by a defect in lysosomal alpha mannosidase.
 
Clinical findings
Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness, mental retardation, hepatosplenomegaly.

Molecular pathology
Alpha-mannosidosis is caused by a defect in MAN2B1 on chromosome 19cen-q13.1.
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