词条 | Beta-mannosidosis |
释义 |
| name = | synonym = Beta-mannosidase deficiency, MANSB | image = Autosomal recessive - en.svg | image_size = | alt = | caption = This condition is autosomal recessive in inheritance | pronounce = | specialty = | symptoms = Respiratory infections, Hearing loss and Intellectual disability.[1] | complications = | onset = | duration = | types = | causes = Mutations in the MANBA gene[2] | risks = | diagnosis = Urine test[3] | differential = | prevention = | treatment = Based on symptoms[4] | medication = | prognosis = | frequency = | deaths = }}Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency,[1] is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene MANBA, located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner.[1] Affected individuals appear normal at birth, and can have a variable clinical presentation. Infantile onset forms show severe neurodegeneration, while some children have intellectual disability. Hearing loss and angiokeratomas are common features of the disease.[2][3] Symptoms and signsThe initial affected individual described in 1986 had a complex phenotype, and was later found to have both beta-mannosidosis and Sanfilippo syndrome.[1] People have been described with a wide spectrum of clinical presentations from infants and children with intellectual disability to adults who present with isolated skin findings (angiokeratomas).[1] Most cases are identified in the first year of life with respiratory infections, hearing loss and intellectual disability. Because of its rarity, and non-specific clinical findings, beta-mannosidosis can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression.[4][5] CauseIn terms of causation several mutations in the MANBA gene is the cause of beta-mannosidosis. The cytogenetic location of the gene is 4q24, furthermore the condition is inherited in an autosomal recessive manner[6][3] MechanismThe pathophysiology of this condition, is better comprehended, if one first looks at the normal function of beta-mannosidase such as its function of breaking down disaccharides{{medical citation needed|date=December 2017}} Beta-mannosidase function is consistent with, it being a lysosomal enzyme catalyzing and thus involved in degradation route for N-linked oligosaccharide moieties(glycoproteins)[7] DiagnosisA diagnosis of beta-mannosidosis is suspected based on the persons clinical presentation. Urine testing to identify abnormal oligosaccharides is a useful screening test, and enzymatic analysis or molecular testing can be used for confirmation.[2] Differential diagnosisDiagnostic techniques for this condition can be done to offer a DDx, via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis.[8] TreatmentIn terms of beta-mannosidosis treatment there is none currently, individuals that exhibit muscle weakness or seizures are treated based on the symptoms(since there's no cure)[9] See also
References1. ^1 2 3 {{OMIM|248510}} 2. ^1 2 {{cite book |last1=Enns |first1=Gregory M. |last2=Steiner |first2=Robert D. |last3=Cowan |first3=Tina M. |editor1-first=Kiriakie |editor1-last=Sarafoglou |editor2-first=Georg F. |editor2-last=Hoffmann |editor3-first=Karl S. |editor3-last=Roth |others= |title=Pediatric Endocrinology and Inborn Errors of Metabolism |edition=1st |year=2009 |publisher=McGraw-Hill Medical |location=New York |isbn= 978-0-07-143915-2 |pages=721–755 |chapter=Lysosomal Disorders}} 3. ^1 2 {{Cite web|url=https://ghr.nlm.nih.gov/condition/beta-mannosidosis|title=beta-mannosidosis|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-07-13}} 4. ^{{Cite journal | last1 = Sedel | first1 = F. | last2 = Baumann | first2 = N. | last3 = Turpin | first3 = J. -C. | last4 = Lyon-Caen | first4 = O. | last5 = Saudubray | first5 = J. -M. | last6 = Cohen | first6 = D. | doi = 10.1007/s10545-007-0661-4 | title = Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults | journal = Journal of Inherited Metabolic Disease | volume = 30 | issue = 5 | pages = 631–641 | year = 2007 | pmid = 17694356 | pmc = }}subscription required 5. ^1 {{Cite web|url=https://rarediseases.info.nih.gov/diseases/869/index|title=Mannosidosis, beta A, lysosomal {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-07-13}} 6. ^{{Cite web|url=https://ghr.nlm.nih.gov/gene/MANBA#location|title=MANBA gene|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-10-25}} 7. ^{{cite web|title=OMIM Entry - * 609489 - MANNOSIDASE, BETA A, LYSOSOMAL; MANBA|url=https://www.omim.org/entry/609489|website=www.omim.org|accessdate=9 May 2018|language=en-us}} 8. ^{{cite book|last1=Johnson|first1=William|title=Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition)|date=2015|publisher=Academic Press|isbn=978-0-12-410529-4|pages=369–383|url=http://www.sciencedirect.com/science/article/pii/B9780124105294000334|accessdate=25 October 2017}}{{Subscription or libraries|sentence|via=ScienceDirect}} 9. ^1 {{cite book|last1=Kelly|first1=Evelyn B.|title=Encyclopedia of Human Genetics and Disease|date=2013|publisher=ABC-CLIO|isbn=9780313387135|page=514|url=https://books.google.com/?id=gqMYt17klVIC&pg=PA514&dq=beta-mannosidosis+treatment#v=onepage&q=beta-mannosidosis%20treatment&f=false|accessdate=10 December 2017|language=en}} Further reading
External links{{Medical resources| DiseasesDB = 34529 | ICD10 = E77.1 | ICD9 = | ICDO = | OMIM = 248510 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D044905 | Orphanet = 118 }}{{Glycoproteinoses}}{{Medicine}} 3 : Glycoprotein metabolism disorders|Rare diseases|Autosomal recessive disorders |
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