Mucopolysaccharidosis ituaiga III

Mucopolysaccharidosis type III (MPS III) o se faʻamaʻi seasea o le tino o loʻo misia pe le lava foi nisi o enzymes manaʻomia e talepeina umi filifili o suka mole. O filifili o molemole e taʻua o le glycosaminoglycans (na taʻua muamua o le mucopolysaccharides). O lona iʻuga, e faʻaputuputu ni molemole i vaega eseese o le tino ma mafua ai faʻafitauli eseese tau le soifua maloloina.

O le tulaga e faatatau i se vaega o faʻamaʻi e taʻua o le mucopolysaccharidoses (MPSs). MPS II e taʻua foi o le Sanfilippo syndrome.

E tele isi ituaiga o MPS, e aofia ai:

• MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
• MPS II (Hunter syndrome)
• MPS IV (Morquio syndrome)

MPS III o se faʻamaʻi tofi. O lona uiga e pasi mai i aiga. Afai o matua uma o loʻo tauʻavea le le galue le kopi o le kenera e fesoʻotaʻi ma lenei tulaga, taʻitasi o a latou fanau ei ai le 25% (1 i le 4) avanoa e atiaʻe ai le faʻamaʻi. E taʻua lea mea o le autosomal recessive uiga.

O le MPS III e tupu pe a manaʻomia ni enzyme e talepe i lalo le filifili heparan sulfate suka o loʻo misi pe leaga.

E fa ituaiga autu o MPS III. O le ituaiga tagata e faʻamoemoeina i le o le enzyme e aʻafia.

• Ituaiga A e mafua mai i se faʻaletonu i le SGSH gafa ma o le sili ona ogaoga foliga. O tagata e iai lenei ituaiga e leai se ituaiga masani o le enzyme e taʻua o le heparan N-sulfatase.
• Ituaiga B e mafua mai i se faʻaletonu i le NAGLU gafa Tagata ma lenei ituaiga o loʻo misi pe le lava le faʻatupuina alpha-N-acetylglucosaminidase.
• Ituaiga C e mafua mai i se faʻaletonu i le HGSNAT gafa Tagata o loʻo iai lenei ituaiga o loʻo misi pe le lava le acetyl-CoA: alpha-glucosaminide N-acetyltransferase.
• Ituaiga D e mafua mai i se faʻaletonu i le GNS gafa Tagata o loʻo iai lenei ituaiga o loʻo misi pe le lava a latou mea e fai N-acetylglucosamine 6-sulfatase.

Faʻailoga masani ona aliaʻe ina ua maeʻa le tausaga muamua o le olaga. O le paʻu i le aʻoaʻoina o tomai e masani ona tupu i le va o tausaga 2 ma le 6. E ono tupu le tamaititi i le tuputupu aʻe i nai tausaga muamua, ae o le maualuga mulimuli e i lalo ifo o le averesi. O le tolopoina o le atinaʻe e mulimuli mai ai le faʻaleagaina o le tulaga mafaufau.

O isi faʻailoga e mafai ona aofia ai:

• Faʻafitauli i amioga, e aofia ai le hyperactivity
• Ufiufi foliga foliga ma laumata mamafa e fetaui i le ogatotonu o foliga i luga aʻe o le isu
• Manava tatā
• Faalauteleina ate ma spleen
• Faigata moe
• Maʻa soʻoga e ono le atoa atoa
• Vaʻai faʻafitauli ma le faʻalogo
• Faafitauli i le savali

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino.

E faia suʻega mimi. Tagata e iai le MPS III o loʻo iai le tele o le mucopolysaccharide e taʻua o le heparan sulfate i le miaga.

O isi suʻega ono aofia ai:

• Toto aganuu
• Echocardiogram
• Suʻega ole gafa
• Suʻega moli mata moli
• Aganuu fibroblast aganuu
• X-ray o ponaivi

Togafitiga o le MPS III e faʻatatau i le puleaina o faʻailoga. E leai se faʻapitoa togafitiga mo lenei faʻamaʻi.

Mo nisi faʻamatalaga ma lagolago, faʻafesoʻotaʻi se tasi o faʻalapotopotoga nei:

• National Organisation for Rare Disorder --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• NIH Genetics Fale Faʻasino Mataupu - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Auupega Sanfilippo Foundation - teamsanfilippo.org

O le MPS III e mafua ai faʻailoga tetele o neura, e aofia ai le le atoatoa lelei o le mafaufau. Tele o tagata ma MPS III ola i o latou tausaga talavou. O nisi e umi atu le ola, ae o isi e ogaoga o latou foliga e feoti a o talavou. Faʻailoga e sili ona ogaoga i tagata ma le ituaiga A.

O nei faʻalavelave e mafai ona tupu:

• Tauaso
• Le mafai e tausi mo oe lava
• Le atoatoa le malosi o le mafaufau
• Faʻaleagaina neula e faʻasolosolo lava ina leaga ma iu ai ina manaʻomia le faʻaaogaina o nofoa uili
• Faoa faamalosi

Valaʻau lau tautua a lau tama pe a fai o lau tama e le foliga mai o tupu tuputupu aʻe poʻo ua masani ona tuputupu aʻe.

Vaʻai lau tautua peʻa e fuafua e fai sau fanau ma o loʻo iai sau talaʻaga aiga ole MPS III.

O fautuaga faʻapitoa e fautuaina mo ulugaliʻi e manaʻo e fai se fanau ma o latou aiga talaʻaga MPS III. O loʻo avanoa le faʻataʻitaʻiga ole Prenatal.

MPS III; Sanfilippo syndrome; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal teuina faʻamaʻi - mucopolysaccharidosis ituaiga III

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Spranger JW. Mucopolysaccharidoses. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 107.

Turnpenny PD, Ellard S. O mea sese na tutupu mai o le metabolism.I totonu: Turnpenny PD, Ellard S, eds. Emery's Elemene o Fomaʻi Genetics. 15th lomiga. Filatelefia, PA: Elsevier; 2017: mata 18.