Ingxaki yeHartnup

Ingxaki yeHartnup yimeko yemfuza apho kukho isiphako ekuhanjisweni kwee-amino acid ezithile (ezinje nge-tryptophan kunye ne-histidine) ngamathumbu amancinci kunye nezintso.

Ingxaki yeHartnup yimeko ye-metabolic ebandakanya ii-amino acid. Yimfuzo esiyizuze njengelifa. Le meko yenzeka ngenxa yotshintsho kwi- I-SLC6A19 Uhlobo. Umntwana kufuneka azuze njengelungelo ikopi yohlobo olunesiphene kubo bobabini abazali ukuze achaphazeleke ngamandla.

Imeko ihlala ibonakala phakathi kweminyaka emi-3 ukuya kweli-9.

Uninzi lwabantu alubonisi zimpawu. Ukuba iimpawu zenzeka, zihlala zibonakala ebuntwaneni kwaye zinokubandakanya:

• Urhudo
• Imood iyatshintsha
• Iingxaki zenkqubo (ye-neurologic) iingxaki, ezinje ngethoni yemisipha engaqhelekanga kunye nokunyakaza okungahambelaniyo
• Olubomvu, ukurhabaxa kolusu, ngesiqhelo xa ulusu luvezwa kukukhanya kwelanga
• Ubuntununtunu ekukhanyeni (photosensitivity)
• Isiqu esifutshane

Umboneleli wezempilo uyalela ukuba kuvavanywe umchamo ukujonga amanqanaba aphezulu ee-amino acid ezingathathi hlangothi. Amanqanaba ezinye ii-amino acid aqhelekile.

Umboneleli wakho unokuvavanya ufuzo olubangela le meko. Uvavanyo lwebhayoloji lunokuodolwa.

Unyango lubandakanya:

• Ukuphepha ukubonakaliswa lilanga ngokunxiba impahla ekhuselayo kunye nokusebenzisa i-sunscreen ekhusela i-15 okanye ngaphezulu
• Ukutya ukutya okuneproteni ephezulu
• Ukuthatha izongezo ezine-nicotinamide
• Ukufumana unyango lwempilo yengqondo, njengokuthatha izidambisi zxinzelelo okanye imeko zokuzinzisa, ukuba utshintsho lwemozulu okanye ezinye iingxaki zempilo yengqondo zenzeka

Uninzi lwabantu abanale ngxaki banokulindela ukuba baphile ubomi obuqhelekileyo ngaphandle kokukhubazeka. Rhoqo, kuye kwakho iingxelo zesifo esibuhlungu senkqubo yemithambo-luvo kwanokufa kwiintsapho ezinesi sifo.

Kwiimeko ezininzi, akukho ngxaki. Iingxaki xa zisenzeka zinokubandakanya:

• Utshintsho kumbala wolusu olusisigxina
• Iingxaki zempilo yengqondo
• Irhashalala
• Ukuhamba okungahambelaniyo

Iimpawu zenkqubo yemithambo-luvo zihlala zitshintshwa. Nangona kunjalo, kwiimeko ezinqabileyo zinokuba nzima okanye zisongele ubomi.

Fowunela umboneleli wakho ukuba uneempawu zale meko, ngakumbi ukuba unembali yosapho yesifo seHartnup. Ukucebisa ngemfuza kuyacetyiswa ukuba unembali yosapho yale meko kwaye ucwangcisa ukukhulelwa.

Ukululekwa ngokwemvelo ngaphambi komtshato kunye nokukhulelwa kunokunceda ukuthintela iimeko ezithile. Ukutya ukutya okuneprotein ephezulu kunokuthintela ukusilela kwe-amino acid ebangela iimpawu.

I-Bhutia YD, i-Ganapathy V. Ukucola iiprotein kunye nokufakwa. Ku: Utshilo u-HM, u-Ed. I-Physiology yePhetshana lesisu. Umhla wesi-6. IPhiladelphia, PA: Elsevier; I-2018: isahluko 47.

IGibson KM, iPearl PL. Iziphoso ezizelwe kwimetabolism kunye nenkqubo yemithambo-luvo. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2016: isahluko 91.

UKliegman RM, uStanton BF, uSt Geme JW, et al. Iziphene kwimetabolism yeeamino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.