beta-Mannosidosis (beta-Mannosidase Deficiency)

An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.

Also Known As:

beta-Mannosidase Deficiency; Lysosomal beta A Mannosidosis; Lysosomal beta-Mannosidase Deficiency; Lysosomal beta Mannosidase Deficiency; Lysosomal beta-Mannosidase Deficiencies; beta Mannosidase Deficiency; beta Mannosidosis; beta-Mannosidase Deficiencies; beta-Mannosidoses; Mannosidosis, beta A, Lysosomal

Networked: 70 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Lysosomal Storage Diseases (Lysosomal Storage Disease)
2.	alpha-Mannosidosis
3.	Fucosidosis
4.	Cerebrotendinous Xanthomatosis
5.	Sandhoff Disease (Sandhoff's Disease)

Experts

1.	Castelnovo, Giovanni: 2 articles (09/2009 - 01/2009)
2.	Labauge, Pierre: 2 articles (09/2009 - 01/2009)
3.	Levade, Thierry: 2 articles (09/2009 - 01/2009)
4.	Renard, Dimitri: 2 articles (09/2009 - 01/2009)
5.	Sabourdy, Frédérique: 2 articles (09/2009 - 01/2009)
6.	de Champfleur, Nicolas: 2 articles (09/2009 - 01/2009)
7.	Balducci, Chiara: 2 articles (08/2008 - 06/2008)
8.	Beccari, Tommaso: 2 articles (08/2008 - 06/2008)
9.	Bibi, Lucia: 2 articles (08/2008 - 06/2008)
10.	Paciotti, Silvia: 2 articles (08/2008 - 06/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to beta-Mannosidosis:

1.	beta-MannosidaseIBA 07/01/2003 - "Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation." 04/10/1982 - "These studies suggest that goat liver contains both lysosomal beta-mannosidase (acidic form; deficient in beta-mannosidosis) and nonlysosomal beta-mannosidase (neutral) activity." 01/01/2009 - "Beta-mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder caused by deficiency of beta-mannosidase activity. " 08/01/2008 - "We propose that the milder phenotype described in some beta-mannosidosis patients with missense mutations in the MANBA gene is not due to residual beta-mannosidase activity, but rather caused by epigenetic and/or environmental factors." 08/01/2008 - "Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations."
2.	Biological FactorsIBA 10/01/1992 - "Several biological factors, such as age, gender, herd, and risk of being a beta-mannosidosis carrier, were considered in this study. "
3.	OligosaccharidesIBA 09/01/1995 - "Thin layer chromatography of amniotic and allantoic fluids was performed to detect oligosaccharides that accumulate in beta-mannosidosis. " 01/01/1993 - "Kidney, brain grey matter and brain white matter contained 33%, 12% and 4%, respectively, of the oligosaccharides expected in the organs of beta-mannosidosis animals. " 06/01/1992 - "Determination of sequence and linkage of tissue oligosaccharides in caprine beta-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometry." 01/01/1992 - "The accumulating oligosaccharides in tissue were thus identical in bovine and caprine beta-mannosidosis; however, the source of the novel oligosaccharides remains to be determined." 01/01/1992 - "This investigation was designed to characterize accumulated kidney oligosaccharides in bovine beta-mannosidosis. "
4.	EnzymesIBA 06/01/1997 - "The present investigation determined the extent of expression of beta-mannosidase deficiency in the caprine fetus at 62 days of gestation, near the end of the period of immunotolerance when donor cells can engraft in various organs without immune rejection and supply missing enzyme. " 01/01/1994 - "Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis." 10/01/1996 - "beta-Mannosidase deficiency should therefore be included when screening for enzyme abnormalities in patients with ACD, even in the absence of neurologic disorders or mental retardation." 09/03/2009 - "beta-Mannosidosis (OMIM 248510) is a rare inborn lysosomal storage disorder caused by the deficient activity of beta-mannosidase, an enzyme encoded by a single gene (MANBA) located on chromosome 4q22-25. " 08/01/2008 - "Beta-mannosidosis (OMIM # 248510) is an autosomal-recessive lysosomal storage disorder caused by deficiency of the lysosomal enzyme beta-mannosidase (MANBA, E.C. "
5.	Glycoproteins (Glycoprotein)IBA 09/01/1991 - "beta-Mannosidosis, an inherited defect of glycoprotein catabolism previously identified in goats and humans, has been recently diagnosed in Salers cattle. " 01/01/1984 - "Caprine beta-mannosidosis, an autosomal recessive disorder of glycoprotein catabolism, as yet undetected in man, was expressed in a 96/150 day gestation goat fetus. " 01/01/1983 - "Central nervous system (CNS) morphological changes were delineated in goats affected with beta-mannosidosis to determine the extent and distribution of lesions associated with this inherited glycoprotein metabolic perturbation. " 12/01/1984 - "We studied 22 cases of glycoprotein storage diseases and differentiated histochemically between alpha- and beta-mannosidosis, fucosidosis, and sialisidosis. " 05/01/1983 - "beta-Mannosidosis, not yet identified in man or other species, is characterized by distinctive neonatal clinical, pathological and biochemical features which differentiate it from the alpha-mannosidosis and other inherited diseases of glycoprotein catabolism."
6.	DisaccharidesIBA 01/01/1990 - "Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients." 06/01/1997 - "Thin-layer chromatography and quantitation of oligosaccharides revealed the presence of tri- and disaccharides, typical of beta-mannosidosis, only in V385. " 10/01/1994 - "The relative contributions of the lysosomal and extra-lysosomal catabolic pathways can be derived by comparing the ratio of trisaccharide Man beta (1 --> 4)GlcNAc beta (1 --> 4)GlcNAc to disaccharide Man beta (1 --> 4)GlcNAc accumulated in tissues from goats with beta-mannosidosis. " 01/31/1990 - "Cultured fibroblasts from two brothers with beta-mannosidosis were shown to accumulate the disaccharide mannosyl-beta(1----4)-N-acetylglucosamine in amounts of 52 and 68 nmol/mg protein. " 02/15/1986 - "Cultured skin fibroblasts established from goats affected with beta-mannosidosis, an inherited neurovisceral storage disorder, showed an absence of lysosomal beta-mannosidase activity and the corresponding accumulation of a trisaccharide (TS) with the structure Man beta (1----4)GlcNAc beta (1----4)GlcNAc (0.4 mumol/g) and lesser amounts (0.15 mumol/g) of a Man beta (1----4)GlcNAc disaccharide (DS). "
7.	Complementary DNA (cDNA)IBA 12/01/1999 - "To more fully understand the molecular pathology of this disease, the mutation associated with bovine beta-mannosidosis was identified by sequence analysis of cDNA from an affected calf. " 10/01/1996 - "A single-base deletion at position 1398 of the coding sequence was identified in the cDNA isolated from a goat affected with beta-mannosidosis. " 01/01/1998 - "Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis." 10/01/1996 - "The complete sequence of the caprine beta-mannosidase cDNA coding region has been determined, and a mutation that is associated with caprine beta-mannosidosis has been identified. " 10/01/1996 - "Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis."
8.	Myelin ProteinsIBA 01/01/1992 - "Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins." 01/22/1996 - "mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis." 08/20/1993 - "Since myelin-associated glycoprotein (MAG) is glycosylated and its metabolism could be directly affected in this disease, we investigated the possibility of a differential treatment of MAG in caprine beta-mannosidosis in comparison to non-glycosylated myelin proteins. "
9.	Mannose (D-Mannose)IBA 04/15/1987 - "beta-D-Mannosidase activity in selected normal adult, neonatal and foetal goat tissues and in tissues from animals affected with caprine beta-mannosidosis was examined with the use of 4-methylumbelliferyl beta-D-mannopyranoside as substrate. " 01/01/1992 - "As in caprine beta-mannosidosis, oligosaccharides with terminal beta-mannose residues and cleaved as well as uncleaved chitobiose linkages were identified in bovine beta-mannosidosis kidney. " 08/20/1993 - "Caprine beta-mannosidosis is an inherited lysosomal storage disorder due to a deficiency of beta-mannosidase which cleaves beta-linked mannose residues from the ends of N-asparagine linked oligosaccharides of glycoproteins. "
10.	Messenger RNA (mRNA)IBA 02/24/1995 - "The mRNA level is decreased in tissues of affected beta-mannosidosis animals. " 01/22/1996 - "mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis."

Therapies and Procedures

1.	Therapeutics 02/01/2006 - "This mouse model closely resembles human beta-mannosidosis and provides a useful tool for studying the phenotypic variation in different species and will facilitate the study of potential therapies for lysosomal storage diseases."