Alpha-mannosidosis types i and ii

An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.

Disease Alternative Name

alpha-mannosidosis
MainRecentTopDoctors

Trending Cases