Faʻafitauli o Hartnup

Hartnup faʻafitauli o se tuʻufaʻasolo tulaga o loʻo i ai se faʻaletonu i le felauaiga o nisi amino acids (pei o le tryptophan ma histidine) e le laʻau ma fatugaʻo.

Hartnup faʻafitauli o se metabolic tulaga aofia ai amino acids. O se tofi tofi. O lenei tulaga tupu ona o mutation i le SLC6A19 gafa E tatau ona maua e le tamaititi le kopi o le mea le aoga mai matua uma ina ia matua afaina ai.

O le tulaga e masani ona aliali mai i le va o tausaga 3 i le 9 tausaga.

Tele o tagata faʻaalia leai ni faʻailoga. Afai e tupu faʻailoga, e masani ona aliali mai i le taimi o laiti ma ono aofia ai:

• Manava tata
• Suiga lagona
• Nervous system (neurologic) faʻafitauli, pei o le le masani maso maso ma gaioiga gaioiga
• Mumu, paʻu le paʻu o le paʻu, e masani lava pe a paʻu le paʻu i le susulu o le la
• Malamalama lelei i le malamalama (photosensitivity)
• Tulaga puupuu

O le a faʻatonu e le tausi soifua maloloina le suʻesuʻeina o le miaga e siaki ai le maualuga o le leʻo iai o amino acid. O le maualuga o isi amino acids atonu e masani.

E mafai e lau tautua ona suʻesuʻeina le gafa na mafua ai lenei tulaga. E mafai foi ona okaina ni suʻega o meaola.

Togafitiga e aofia ai:

• Aloese mai le susulu o le la e ala i le faia o ofu puipui ma le faʻaaogaina o le sunscreen ma le puipuiga vaega o le 15 pe sili atu
• Taumafa i le maualuga-porotini taumafa
• Aveina o faʻaopoopoga o loʻo iai le nicotinamide
• Togafitiga o le mafaufau, e pei o le inuina o vailaʻau, poʻo lagona faʻamalieina, pe a fai e fesuiaʻi lagona poʻo ni faʻafitauli i le mafaufau

Tele o tagata e maua ile faʻamaʻi lenei e ono faʻamoemoe e ola i se olaga masani e aunoa ma se faʻapitoa. E seasea lava, ua iai lipoti o faʻamaʻi ogaoga o le neula ma e oʻo lava i maliu i aiga e maua i lenei faʻamaʻi.

I le tele o tulaga, e leai ni faʻalavelave. Faʻalavelave pe a tupu e ono aofia ai:

• Suiga i le paʻu lanu e tumau
• Faʻafitauli o le soifua maloloina o le mafaufau
• Mageso
• Gaoioiga le faʻamaopoopoina

Faʻamataʻu ole sisitema sisitema e masani lava ona suia. Peitaʻi, i ni mea e seasea tupu, e ono oʻo ia i latou pe faʻamataʻu foʻi i le ola.

Valaʻau mo lau tautua peʻa iai ni faʻailoga o lenei maʻi, aemaise pe a iai sau talaʻaga aiga o le faʻamaʻi o le Hartnup. E fautuaina le faufautua ole kenera pe a fai e iai sau talaʻaga aiga o lenei tulaga ma o loʻo e fuafuaina se maʻitaga.

O feutanaʻiga masani aʻo leʻi faia le faʻaipoipoga ma le to a e ono fesoasoani e puipuia ai nisi mataupu. O le 'ai i meaʻai maualuga-protein e ono puipuia ai le le atoatoa o le amino acid e mafua ai faʻailoga.

Bhutia YD, Ganapathy V. Polotini faʻatumuina ma mitiia. I: Fai mai HM, ed. Physiology o le Gastrointestinal Tract. 6th ed. Filatelefia, PA: Elsevier; 2018: mata 47.

Gibson KM, Penina PL. O mea sese o loʻo tupu mai i totonu ole metabolism ma le neula. I totonu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology i Fomaʻi Faʻataʻitaʻi. 7th ed. Filatelefia, PA: Elsevier; 2016: mataʻi 91.

Kliegman RM, Stanton BF, St.Geme JW, et al. Faʻaletonu i le metabolism o amino acids. I le: 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 103