Ukuphazamiseka kweHartnup

Isifo i-Hartnup yisimo sezakhi zofuzo lapho kukhona khona iphutha ekuthuthweni kwama-amino acid athile (njenge-tryptophan ne-histidine) ngamathumbu amancane nezinso.

Isifo seHartnup yisimo se-metabolic esifaka phakathi ama-amino acid. Kuyisimo esizuzwe njengefa. Lesi simo senzeka ngenxa yokuguquka kwesimo kufayela le- SLC6A19 isakhi sofuzo. Ingane kufanele ifake ikhophi yofuzo olungalungile kubo bobabili abazali ukuze ithinteke kakhulu.

Isimo sivame ukuvela phakathi kweminyaka engu-3 kuye kwengu-9.

Iningi labantu alibonisi zimpawu. Uma izimpawu zenzeka, zivame ukuvela ebuntwaneni futhi zingafaka:

• Uhudo
• Ukushintsha kwemizwelo
• Izinkinga zesistimu yezinzwa (i-neurologic), ezinjengethoni yemisipha engajwayelekile nokunyakaza okungahambisani
• Ukuqhuma kwesikhumba okubomvu, okunesikhumba, imvamisa lapho isikhumba sivezwa yilanga
• Ukuzwela ekukhanyeni (photosensitivity)
• Isiqu esifushane

Umhlinzeki wezokunakekelwa kwempilo uzo-oda ukuhlolwa komchamo ukubheka amazinga aphezulu ama-amino acid angathathi hlangothi. Amazinga amanye ama-amino acid angahle abe ejwayelekile.

Umhlinzeki wakho angahlola isakhi sofuzo esidala lesi simo. Ukuhlolwa kwamakhemikhali nakho kunga-oda.

Ukwelashwa kufaka:

• Ukugwema ukuvezwa yilanga ngokugqoka okokuvikela nokusebenzisa i-sunscreen enesici sokuvikela esingu-15 noma ngaphezulu
• Ukudla ukudla okuneprotheni ephezulu
• Ukuthatha izithasiselo eziqukethe i-nicotinamide
• Ukwelashwa ngokwezempilo yengqondo, njengokuthatha ama-anti-depressants noma ama-mood stabilizers, uma ukushintsha kwemizwelo noma ezinye izinkinga zempilo yengqondo zenzeka

Iningi labantu abanalesi sifo bangalindela ukuphila impilo ejwayelekile ngaphandle kokukhubazeka. Imvamisa, kube nemibiko yesifo esibi sesistimu yezinzwa ngisho nokufa emindenini enalesi sifo.

Ezimweni eziningi, azikho izinkinga. Izinkinga lapho zenzeka zingafaka:

• Izinguquko kumbala wesikhumba ezihlala unomphela
• Izinkinga zempilo yengqondo
• I-Rash
• Ukunyakaza okungahambisani

Izimpawu zesistimu yezinzwa zivame ukubuyiselwa emuva. Kodwa-ke, ezimweni ezingavamile zingaba nzima noma zisongele impilo.

Shayela umhlinzeki wakho uma unezimpawu zalesi simo, ikakhulukazi uma unomlando womndeni wesifo se-Hartnup. Ukwelulekwa ngofuzo kuyanconywa uma unomlando womndeni walesi simo futhi uhlela ukukhulelwa.

Ukwelulekwa ngofuzo ngaphambi komshado nokukhulelwa kungasiza ekuvikeleni amanye amacala. Ukudla ukudla okunamaprotheni amaningi kungavimbela ukusilela kwe-amino acid okudala izimpawu.

I-Bhutia YD, i-Ganapathy V. Amaprotheni ukugaya nokufakwa. Ku: Kusho uHM, u-ed. I-Physiology yoMgudu Wamathumbu. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2018: isahluko 47.

IGibson KM, iPearl PL. Amaphutha azalwa nawo we-metabolism kanye nesistimu yezinzwa. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 91.

UKliegman RM, uStanton BF, uSt Geme JW, et al. Amaphutha ku-metabolism yama-amino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.