Alpha-mannosidosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/alpha-mannosidosis

Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), knock knees, and deterioration of the bones and joints.

genetic conditions

References

Beck M, Olsen KJ, Wraith JE, Zeman J, Michalski JC, Saftig P, Fogh J, Malm D. Natural history of alpha mannosidosis a longitudinal study. Orphanet J Rare Dis. 2013 Jun 20;8:88. doi: 10.1186/1750-1172-8-88.
Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM,Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C.Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem celltransplantation. J Pediatr. 2004 May;144(5):569-73.
Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM. Adultalpha-mannosidosis: clinical progression in the absence of demyelination.Neurology. 2004 Nov 9;63(9):1744-6.
Hansen G, Berg T, Riise Stensland HM, Heikinheimo P, Klenow H, Evjen G,Nilssen Ø, Tollersrud OK. Intracellular transport of human lysosomalalpha-mannosidase and alpha-mannosidosis-related mutants. Biochem J. 2004 Jul15;381(Pt 2):537-46.
Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR. Early onsetalpha-mannosidosis with slow progression in three Hispanic males. Dev Med ChildNeurol. 2007 Nov;49(11):854-7. Erratum in: Dev Med Child Neurol. 2008Jan;50(1):32.
Malm D, Nilssen Ø. Alpha-Mannosidosis. 2001 Oct 11 [updated 2019 Jul 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1396/
Malm D, Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Review.
Malm D, Pantel J, Linaker OM. Psychiatric symptoms in alpha-mannosidosis. JIntellect Disabil Res. 2005 Nov;49(Pt 11):865-71.
Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T. Funtional characterization offour novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. Clin Chim Acta. 2007 Jan;375(1-2):136-9.
Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. HumMutat. 2005 Mar;25(3):320.
Sun H, Wolfe JH. Recent progress in lysosomal alpha-mannosidase and itsdeficiency. Exp Mol Med. 2001 Mar 31;33(1):1-7. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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