Ukujikeleza okungajwayelekile kwe-urea

Ukungajwayelekile komjikelezo we-uereditary yisimo esizuzwe njengefa. Kungadala izinkinga ngokususwa kukadoti emzimbeni emchameni.

Umjikelezo we-urea yinqubo lapho kususwa khona imfucuza (i-ammonia) emzimbeni. Uma udla amaprotheni, umzimba uwahlukanisa abe ama-amino acid. I-Amonia ikhiqizwa ngama-amino acid asele, futhi kufanele isuswe emzimbeni.

Isibindi sikhiqiza amakhemikhali amaningana (ama-enzyme) aguqula i-ammonia ibe yifomu ebizwa nge-urea, umzimba ongayisusa emchameni. Uma le nqubo iphazamiseka, amazinga e-ammonia aqala ukukhuphuka.

Izimo eziningi ezizuzwe njengefa zingadala izinkinga ngale nqubo yokususa imfucuza. Abantu abanenkinga yomjikelezo we-urea banegciwane elingalungile elenza ama-enzyme adingekayo ukudiliza i-ammonia emzimbeni.

Lezi zifo zibandakanya:

• I-Argininosuccinic aciduria
• Ukushoda kwe-Arginase
• Ukushoda kweCarbamyl phosphate synthetase (CPS)
• I-Citrullinemia
• Ukushoda kwe-N-acetyl glutamate synthetase (NAGS)
• Ukushoda kwe-Ornithine transcarbamylase (OTC)

Njengeqembu, lezi zinkinga zenzeka koyedwa kwabangu-30,000 abasanda kuzalwa. Ukushoda kwe-OTC yikhona okuvame kakhulu kulezi zinkinga.

Abafana bavame ukuthinteka ukushoda kwe-OTC kunamantombazane. Amantombazane awavamile ukuthinteka. Lawo mantombazane athintekile anezimpawu ezinzima futhi angaba naso lesi sifo kamuva empilweni.

Ukuthola ezinye izinhlobo zokuphazamiseka, udinga ukuthola ikhophi elingasebenzi lozalo kubo bobabili abazali. Kwesinye isikhathi abazali abazi ukuthi bathwala isakhi sofuzo kuze kube yilapho ingane yabo ithola ukugula.

Imvamisa, ingane iqala ukuncelisa kahle futhi ibukeka ijwayelekile. Kodwa-ke, ngokuhamba kwesikhathi ingane iba nokungondli kahle, ukuhlanza, nokulala, okungaba kujule kakhulu kangangokuba ingane kunzima ukuyivusa. Lokhu kuvame ukwenzeka phakathi nesonto lokuqala ngemuva kokuzalwa.

Izimpawu zifaka:

• Ukudideka
• Ukunciphisa ukudla
• Ungakuthandi ukudla okuqukethe amaprotheni
• Ukwanda kobuthongo, ubunzima bokuvuka
• Isicanucanu, ukuhlanza

Umhlinzeki wezokunakekelwa kwempilo uvame ukuxilonga lezi zinkinga lapho ingane isewusana.

Izimpawu zingafaka:

• Ama-amino acid angajwayelekile egazini nasemchameni
• Izinga elingajwayelekile le-orotic acid egazini noma emchameni
• Izinga eliphezulu le-ammonia yegazi
• Izinga elijwayelekile le-asidi egazini

Ukuhlolwa kungafaka:

• Igazi legazi lomzimba
• I-ammonia yegazi
• Iglucose yegazi
• Ama-amino acid we-Plasma
• Umchamo acid acid
• Ukuhlolwa kofuzo
• I-biopsy yesibindi
• Iskena se-MRI noma se-CT

Ukukhawulela amaprotheni ekudleni kungasiza ekwelapheni lokhu kuphazamiseka ngokunciphisa inani le-nitrogen imfucuza ekhiqizwa ngumzimba. (Imfucuza isesimweni se-ammonia.) Amafomula akhethekile amaprotheni amancane wosana nojahidada ayatholakala.

Kubalulekile ukuthi umhlinzeki aqondise ukudla kwamaprotheni. Umhlinzeki angalinganisa inani lamaprotheni ingane elitholayo ukuze lanele ukukhula, kepha alanele ukudala izimpawu.

Kubaluleke kakhulu kubantu abanalezizinkinga ukugwema ukuzila ukudla.

Abantu abanokungajwayelekile komjikelezo we-urea kumele futhi baqaphele kakhulu ngezikhathi zokucindezeleka ngokomzimba, njengalapho bangenwa yizifo. Ukucindezeleka, njengomkhuhlane, kungadala ukuthi umzimba wephule amaprotheni awo. Lawa maprotheni angeziwe angenza kube nzima emjikelezweni ongavamile we-urea ukususa ama-product.

Thuthukisa uhlelo nomhlinzeki wakho lokuthi uma ugula ukugwema wonke amaprotheni, uphuze iziphuzo eziphezulu ze-carbohydrate, futhi uthole uketshezi olwanele.

Iningi labantu abanezinkinga zomjikelezo we-urea lizodinga ukuhlala esibhedlela ngesikhathi esithile. Ngalezo zikhathi, zingalashwa ngemithi esiza umzimba ukuthi ususe imfucuza equkethe i-nitrogen. I-Dialysis ingasiza ukususa umzimba we-ammonia eyeqile ngesikhathi sokugula kakhulu. Abanye abantu bangadinga ukufakelwa kwesibindi.

I-RareConnect: Umphakathi Osemthethweni We-Cycle Disorder - www.rareconnect.org/en/community/urea-cycle-disorders

Ukuthi abantu benza kahle kangakanani kuya ngokuthi:

• Yikuphi ukujikeleza okungajwayelekile kwe-urea abanakho
• Kunzima kangakanani
• Kusheshe kutholakale kanjani
• Bakulandela eduze kangakanani ukudla okunomkhawulo wamaprotheni

Izingane ezitholakale esontweni lokuqala lokuphila futhi zifakwa ekudleni okunomkhawulo wamaprotheni khona manjalo zingenza kahle.

Ukunamathela ekudleni kungaholela ekuhlakanipheni okuvamile kwabantu abadala. Ukuphindaphinda ukungakulandeli ukudla noma ukuba nezimpawu ezibangelwa yingcindezi kungaholela ekuvuthweni kobuchopho nasekulimaleni kobuchopho.

Izingcindezi ezinkulu, njengokuhlinzwa noma izingozi, zingaba nzima kubantu abakulesi simo. Kudingeka ukunakekelwa okukhulu ukugwema izinkinga ngalezo zikhathi.

Izinkinga zingafaka:

• I-Coma
• Ukudideka futhi ekugcineni ukudideka
• Ukufa
• Khuphula izinga le-ammonia yegazi
• Ukuvuvukala kobuchopho

Ukuhlolwa ngaphambi kokubeletha kuyatholakala. Ukuhlolwa kofuzo ngaphambi kokufakwa kombungu kungatholakala kulabo abasebenzisa in vitro uma kwaziwa imbangela ethile yofuzo.

Udokotela wezokudla kubalulekile ukusiza ukuhlela nokuvuselela ukudla okunomkhawulo wamaprotheni njengoba ingane ikhula.

Njengezifo eziningi ezizuzwe njengefa, ayikho indlela yokuvimbela lezi zifo ukuthi zingakhuli ngemuva kokuzalwa.

Ukusebenzisana phakathi kwabazali, iqembu lezokwelapha, nengane ethintekile ukulandela indlela yokudla ebekiwe kungasiza ekuvimbeleni ukugula okunzima.

Ukungajwayelekile komjikelezo we-urea - ifa; Umjikelezo we-Urea - ukungajwayelekile okuyifa

• Umjikelezo we-Urea

IKliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. 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.

UKonczal LL, uZinn AB. Amaphutha azalwa nawo we-metabolism. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 90.

I-Nagamani SCS, i-Lichter-Konecki U. amaphutha wokuzalwa we-urea synthesis. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology: Izimiso kanye Nokuzijwayeza. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2017: isahluko 38.