mannosidosis

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.

man·no·si·do·sis

(man'ō-si-dō'sis), [MIM*248500]
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.

mannosidosis

(măn′ə-sĭ-dō′sĭs)
n.
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.

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

(1) Alpha-mannosidosis, see there.
(2) Beta-mannosidosis, see there.

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

mannosidosis

An 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.

man·no·si·do·sis

(man'ō-si-dō'sis) [MIM*248500]
Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue and other findings.

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.
References in periodicals archive ?
Neither is mannosidosis, a hereditary disease caused by a disruption of carbohydrate metabolism that includes facial deformities and mental retardation.
Lysosomal storage disease in Sida carpinifolia toxicosis: an induced mannosidosis in horses.
Table Medical causes of visual hallucinations in children and adolescents Medical condition Symptom Neurologic Migraine withaura; migraine coma; familial hemiplegic migraines; temporal or occipital lobe seizures; ictal, postictal, or interict al psychosis; tumors inoccipital ortemporal lobes Ophthalmologic Cataracts, retinal diseases, glaucoma Inborn errors Homocysteine remethylation defects: urea cycle of metabolism disorders: GM2 gangliosidoses: Niemann-Pick disease, type C: alpha mannosidosis Delirium Metabolic disturbance, infection, intracranial process Metabolic Cardiopulmonary insufficiency, uremia, hepatic encephalopathy disease, vitamin deficiencies, inflammatory disease Source: References 4,5
These defects are: mannosidosis, rejected by causing deformity at the skull and face (JOLLY, 1993); gangliosidosis, but the signs of this disease should include absence of response to external stimulus and slow mastication and deglutition (JOLLY, 1993); cerebellar abiotrophy, but the histological findings include loss of the Purkinge cells (DE LAHUNTA, 1990); hereditary neurodegeneration, but it is a recessive mutation linked to the sex, occurring only on males (GEORGE, 2002); calves's hereditary ataxia, but histological examination reveals aplasia of the cerebellum neurons (GEORGE, 2002).
International Society For Mannosidosis and Related Diseases (ISMRD) -- U.
org 1,2,9 Spanish/Italian materials MANDIBULOFACIAL DYSOSTOSIS See: Nager & Miller Syndromes; Treacher Collins Syndrome MANNOSIDOSIS See: Tay-Sachs Disease MAPLE SYRUP URINE DISEASE See also: Metabolic Disorders Maple Syrup Urine Disease Family Support Group Joyce Brubacher 24806 SR119 Goshen, IN 46526 (574) 862-2992 * msud-support@ characterlink.
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes and Gaucher disease type III.
org 1,2,9; Spanish/Italian materials MANDIBULOFACIAL DYSOSTOSIS See: Nager & Miller Syndromes; Treacher Collins Syndrome MANNOSIDOSIS See: Tay-Sachs Disease MAPLE SYRUP URINE DISEASE See also: Acidemia, Organic; Metabolic Disorders Maple Syrup Urine Disease Family Support Group 5720 Buckfield Ct.
Total acid [alpha]-glucosidase (a) Disorder n [micro]g/L Control 195 17 (2-61) Acid lipase (c) 2 76 (65-87) Fabry (c) 27 10 (5-46) Galactosialidosis 1 14 Gaucher (c) 87 40 (0-737) GM I (d) 14 16 (7-29) Mucolipidosis 14 149 (7-273) II/III (c) Krabbe 14 17 (5-31) Mannosidosis 9 10 (6-25) MLD 34 17 (1-55) MSD (c) 4 27 (22-102) MPS I 24 19 (3-27) MPS II (c) 23 26 (13-46) MPS IIIA (c) 24 23 (2-40) MPS IIIB 19 20 (10-38) MPS IIIC 3 18 (13-22) MPS IIID 3 25 (6-29) MPS IVA (c) 16 14 (6-21) MPS VI 10 12 (5-65) N-P (A/B) (c) 10 39 (39-84) N-P (C) (c) 13 24 (15-84) Pompe (e) 22 0.
org 9; provides physicians with summaries of consenting, registered patients' anesthesia histories MANDIBULOFACIAL DYSOSTOSIS See: Nager & Miller Syndromes; Treacher Collins Syndrome MANNOSIDOSIS See: Tay-Sachs Disease MAPLE SYRUP URINE DISEASE See also: Acidemia, Organic; Metabolic Disorders Maple Syrup Urine Disease Family Support Group 5720 Buckfield Ct.
net 9; provides physicians with summaries of consenting, registered patients' anesthesia histories MANDIBULOFACIAL DYSOSTOSIS See also Nager & Miller Syndromes; Treacher Collins Syndrome MANNOSIDOSIS See also Tay-Sachs Disease MAPLE SYRUP URINE DISEASE See also: Acidemia, Organic; Metabolic Disorders Maple Syrup Urine Disease Family Support Group 24806 State Rd.