alpha-mannosidosis
n. a rare and progressive autosomal recessive, lysosomal storage disease involving deficient activity of an enzyme, alpha-D-mannosidase, needed to metabolize the sugar mannose. Mutations in the MAN2B1 gene cause the disease. Affected individuals have slow motor development; intellectual disability; skeletal abnormalities; and anomalous facial features (e.g., large head, low hairline, flattened bridge of the nose, protruding jaw, large tongue). Early-onset alpha-mannosidosis, the most severe form, can affect the fetus but most often begins in early infancy. It is typically fatal during childhood. Onset of the disorder later in childhood or early adolescence is associated with milder symptoms that progress more slowly and with an increased lifespan into middle age.