an inborn error of metabolism, thought to be an autosomal recessive trait, marked by a defect in alpha-mannosidase activity, resulting in lysosomal accumulation of mannose-rich substrates. Clinically, there are coarse features, upper respiratory congestion and infections, profound mental retardation, hepatosplenomegaly, cataracts, radiographic signs of defective ossification, and a gibbus deformity (hump). A much milder form also occurs.
Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal recessive inheritance, caused by mutation in the α-mannosidase gene (MANB) on chromosome 19p.
mannosidosis/man·no·si·do·sis/ (man″ōs-ĭ-do´sis) a lysosomal storage disease due to a defect in α-mannosidase activity that results in lysosomal accumulation of mannose-rich substrates; it is characterized by coarse facies, upper respiratory problems, mental retardation, hepatosplenomegaly, and cataracts.
1. An inherited lysosomal storage disease (alpha-mannosidosis) characterized by the accumulation of mannose-containing oligosaccharides in the tissues, resulting in symptoms of varying severity that include intellectual disability, enlarged liver and spleen, facial dysmorphism, skeletal abnormalities, immune deficiency, and hearing loss.
2. An inherited lysosomal storage disease (beta-mannosidosis) characterized by the accumulation of mannose-containing disaccharides in the tissues, resulting in intellectual disability, hearing loss, and often angiokeratomas.
a lysosomal storage disease caused by an enzymatic defect in the metabolism of mannose-containing glycoproteins, resulting in accumulation of oligosaccharides. Characteristics include coarse facies, upper respiratory congestion and infections, profound mental retardation, hepatosplenomegaly, cataracts, radiographic signs of skeletal abnormalities, and gibbus deformity. Mannosidosis is divided into type I (infantile onset) and type II (juvenile-adult onset).
mannosidosis(1) Alpha-mannosidosis, see there.
(2) Beta-mannosidosis, see there.
mannosidosisAlpha-d-mannosidase deficiency Metabolic disease An AR condition caused by a defect in lysosomal alpha B mannosidase Clinical Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness
mannosidosisAn autosomal recessive lysosomal storage disease similar to Hurler's disease, caused by a deficiency of the enzyme alpha mannosidase. There are two types; Type 1leads to an early death from severe systemic disturbances. Type II is less severe.
Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue and other findings.
an inborn error of metabolism, in which inactivity or an inherited deficiency of mannosidase results in lysosomal accumulation of mannose-rich substrates. Deficiency of the α-isomer (α-mannosidosis) is inherited in Aberdeen Angus, Murray Grey, Simmental, Holstein and Galloway calves as an autosomal recessive trait, and the resulting disease is of economic importance. From several months of age, affected calves show ataxia, head tremor, aggression, and finally paralysis. A similar disease has been reported in cats.
Deficiency of the β-isomer is inherited, also as an autosomal recessive trait, in Nubian goats and Saler calves, causing neurological deficits and tremors from birth. There are also skeletal abnormalities.
caused by ingestion of astragalus, oxytropis and swainsona spp., which contain alkaloids that inhibit α-mannosidase activity. Called also locoweed poisoning.