Alpha-mannosidosis

Alpha-mannosidosis

Infobox_Disease
Name = Alpha-mannosidosis
Caption =
DiseasesDB = 31422
ICD10 = ICD10|E|77|1|e|70
ICD9 = ICD9|271
ICDO =
OMIM = 248500
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D008363

Alpha-mannosidosis is an autosomal recessivecite journal |pmid=9758606 |year=1998 |month=Oct |author=Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T |title=Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis |volume=63 |issue=4 |pages=1015–24 |pmc=1377481 |doi=10.1086/302048 |journal=American journal of human genetics] metabolic disorder that causes mental and physical deterioration. It is a lysosomal storage disorder.cite journal |author=Roces DP, Lüllmann-Rauch R, Peng J, "et al" |title=Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study |journal=Hum. Mol. Genet. |volume=13 |issue=18 |pages=1979–88 |year=2004 |pmid=15269179 |doi=10.1093/hmg/ddh220 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15269179]

Pathophysiology

A defective α-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome, causes sugar build up and impair cell function.

Complete absence of functional enzyme leads to death during early childhood due to deterioration of the central nervous system. Enzyme with low residual activity leads to a milder type of the disease, with symptoms like reduced hearing, mental retardation, susceptibility to bacterial infections and skeletal deformities. The course of the disease is progressive.

Genetic prevalence

The worldwide incidence of alpha-mannosidosis is in the range of 1 per 500,000cite journal |author=Malm D, Nilssen O |title=Alpha-mannosidosis |journal=Orphanet J Rare Dis |volume=3 |issue=1 |pages=21 |year=2008 |pmid=18651971 |doi=10.1186/1750-1172-3-21 |url=http://www.ojrd.com/content/3/1/21] to 1 per 1,000,000.

References

External links

* [http://www.mannosidosis.org/alphaman/amanclinic.htm mannosidosis.org]
* [http://health.yahoo.com/ency/healthwise/nord420 Yahoo]
* [http://health.enotes.com/genetic-disorders-encyclopedia/mannosidosis eNotes]
*dmoz|Health/Conditions_and_Diseases/Genetic_Disorders/Mannosidosis/
*RareDiseases|6968|Alpha-mannosidosis type 1
*RareDiseases|9651|Alpha-mannosidosis type 2


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