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.
mannosidosis
mannosidosis [man″o-sĭ-do´sis]
mannosidosis
man·no·si·do·sis (m n  -s -d  ss)n. An inherited disorder caused by the deficiency of an enzyme necessary for the metabolism of mannose and characterized by mental retardation, kyphosis, and an enlarged tongue, with the accumulation of mannose in the body tissues. |
mannosidosis
[man′ō·si·dō′sis]
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 [man″o-sĭ-do´sis]
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.
mannosidosis
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.
acquired mannosidosis
caused by ingestion of astragalus, oxytropis and swainsona spp., which contain alkaloids that inhibit α-mannosidase activity. Called also locoweed poisoning.
mannosidosis
Alpha-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
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