alpha-mannosidosis


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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.
References in periodicals archive ?
The LSDs for which clinical trials are in various phases include Mucopolysaccharidosis Type-IIIA, Mucoploysaccharidosis Type-IVA, Mucoploysaccharidosis Type-VII, Metachromatic Leukodystrophy, Wolman Disease, Alpha-mannosidosis and Niemann Pick C/D.
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.