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

(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

(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.
References in periodicals archive ?
At 2 years of age, comprehensive screening for metabolic disorders was completed including mannosidosis, fucosidosis, metachromatic leukodystrophy, Sandhoff disease, lysosomal storage diseases, GM1 gangliosidosis, Krabbe disease, and mucopolysaccharidosis (types 13 and 6).
Those are as follows: "achondroplasia", "acromegaly", "albinism", "aniridia", "brachycephaly", "cystinosis", "cystinuria", "citrullinemia", "chondrosarcoma", "choroideremia", "scaphocephaly", "scleroderma", "phenylketonuria", "fibromyalgia" (6), "galactosemia", "glycogen storage disease", "hydrocephalus", "hypochondroplasia", "hypopituitarism", "leukodystrophy", "lymphangioleiomyomatosis", "mannosidosis", "mastocytosis", "narcolepsy", "nephroptosis", "nevus", "osteonecrosis", "pycnodysostosis", "plagiocephaly", "retinoschisis", "sialidosis", "syringomyelia" and "thalassemia ".
Widespread angiokeratomas also occur in patients with several additional enzyme deficiencies, which include a-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartylglucosaminidase (aspartylglucosaminuria), AY-mannosidase (AY- mannosidosis), a-N-acetylgalactosaminidase (Kanski disease), and AY-galactosidase (adult- onset GM1 gangliosidosis).13 Also, ACD may occur without recognizable enzyme deficiency,3,4 or as benign form without systemic features,5 or normal physical, mental development and with skin lesions alone.6
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 Urine drug screens should be conducted for all adolescents and children.
Widespread angiokeratomas also occur in patients with several additional enzyme deficiencies, which include a-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartylglycosaminase (aspartylglucosaminuria), AY-mannosidase (AY- mannosidosis), a-N-acetylgalactosaminidase (Kansaki disease), and AY-galactosidase (adult- onset GM1 gangliosidosis).6
Lysosomal storage disease in Sida carpinifolia toxicosis: an induced mannosidosis in horses.
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).
PO Box 1069 Sherburne, NY 13460 (800) 644-9737, (607) 674-7901, (800) 674-7910 (fax) * mhaus@norwich.net http://www.mhaus.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.net http://www.msud-support.org 1,2,3,4,6,7,8 MARDEN-WALKER SYNDROME See: Cleft Palate; Connective Tissue Disorders; Growth Disorders MARFAN SYNDROME See also: Connective Tissue Disorders; Heart Disorders; Scoliosis Canadian Marfan Association Laura Libralesso Executive Director Centre Plaza Postal Outlet 128 Queen St., S.
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.
PO Box 1069 Sherburne, NY 13460 (800) 986-4287, (607) 674-7901, (800) 674-7910 (fax) ??mhaus@norwich.net http://www.mhaus.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.
PO Box 1069 Sherburne, NY 13460 (800) 986-4287, (607) 674-7901, (800) 674-7910 (fax) ??mhaus@norwich.net http://www.mhaus.org 1,2,9; Spanish/Italian materials North American Malignant Hyperthermia Registry of the Hyperthermia Association of the United States (MHAUS) Dept of Anesthesia, Penn State University PO Box 850 Hershey, PA 17033 (717) 531-6936, (717) 531-6221 (fax) ??mhaus@norwich.net http://www.mhaus.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.
PO Box 850 Hershey, PA 17033 (717) 531-6936 (717) 531-6221 (fax) www.mhaus.org ??mhaus@norwich.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.