alpha-mannosidosis
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.