Phenylketonuria

I-Phenylketonuria (PKU) yisimo esingajwayelekile lapho ingane izalwa ingenamandla wokwephula kahle i-amino acid ebizwa nge-phenylalanine.

I-Phenylketonuria (PKU) izuzwe njengefa, okusho ukuthi idluliselwa emindenini. Bobabili abazali kufanele badlulise ikhophi engasebenzi yeseli ukuze ingane ibe nalesi simo. Uma kunjalo, izingane zabo zinethuba elilodwa koku-4 lokuthinteka.

Izingane ezine-PKU azinayo i-enzyme ebizwa nge-phenylalanine hydroxylase. Kuyadingeka ukudiliza i-amino acid phenylalanine ebalulekile. I-Phenylalanine itholakala ekudleni okuqukethe amaprotheni.

Ngaphandle kwe-enzyme, amazinga e-phenylalanine akha emzimbeni. Lokhu kwakha kungalimaza uhlelo oluphakathi lwezinzwa futhi kudale ukulimala kobuchopho.

I-Phenylalanine ibamba iqhaza ekukhiqizeni umzimba kwe-melanin. I-pigment ibhekele umbala wesikhumba nezinwele. Ngakho-ke, izinsana ezinalesi sifo zivame ukuba nesikhumba esikhanyayo, izinwele, namehlo kunabafowethu noma odadewabo abangenalesi sifo.

Ezinye izimpawu zingafaka:

• Ukubambezeleka kwamakhono engqondo nawomphakathi
• Usayizi wekhanda mncane kakhulu kunokujwayelekile
• Ukungasebenzi kahle
• Ukunyakaza kwezingalo noma kwemilenze
• Ukukhubazeka kwengqondo
• Ukuquleka
• Ukuqhuma kwesikhumba
• Ukuthuthumela

Uma i-PKU ingalashwa, noma uma kudliwa ukudla okuqukethe i-phenylalanine, umoya, isikhumba, i-wax yendlebe, nomchamo ungaba nephunga elithi "mousy" noma "musty". Leli phunga lingenxa yokwakheka kwezinto ze-phenylalanine emzimbeni.

I-PKU ingatholakala kalula ngokuhlolwa kwegazi okulula. Zonke izifunda e-United States zidinga ukuhlolwa kokuhlolwa kwe-PKU kwazo zonke izingane ezisanda kuzalwa njengengxenye yephaneli lokuhlola izingane ezisanda kuzalwa. Ukuhlolwa kuvame ukwenziwa ngokuthatha amaconsi egazi ambalwa enganeni ngaphambi kokuba ingane iphume esibhedlela.

Uma ukuhlolwa kokuhlolwa kutholakala ukuthi kulungile, ukuhlolwa kwegazi nomchamo okuqhubekayo kuyadingeka ukuqinisekisa ukuxilongwa. Ukuhlolwa kofuzo nakho kuyenziwa.

I-PKU isifo eselaphekayo. Ukwelashwa kuhilela ukudla okuphansi kakhulu ku-phenylalanine, ikakhulukazi lapho ingane ikhula. Ukudla kufanele kulandelwe ngokuqinile. Lokhu kudinga ukugadwa okuseduze ngudokotela wezokudla noma udokotela obhalisiwe, nokubambisana komzali nengane. Labo abaqhubeka nokudla baba ngabantu abadala banempilo engcono ngokomzimba nangokwengqondo kunalabo abangahlali kukho. "Ukudla impilo yonke" sekuyindlela ejwayelekile ochwepheshe abayincomayo. Abesifazane abane-PKU badinga ukulandela indlela yokudla ngaphambi kokukhulelwa nakuyo yonke isikhathi sokukhulelwa.

Kukhona inani elikhulu le-phenylalanine obisini, amaqanda, nokunye ukudla okuvamile. I-sweetener yokufakelwa iNutraSweet (aspartame) nayo iqukethe i-phenylalanine. Noma imiphi imikhiqizo equkethe i-aspartame kufanele igwenywe.

Kunezindlela eziningana ezikhethekile ezenzelwe izinsana ezine-PKU. Lokhu kungasetshenziswa njengomthombo wamaprotheni ophansi kakhulu ku-phenylalanine futhi olinganiselwe ama-amino acid asele asele. Izingane ezindala nabantu abadala basebenzisa ifomula ehlukile enikeza amaprotheni ngamanani abawadingayo. Abantu abane-PKU badinga ukuthatha ifomula nsuku zonke impilo yabo yonke.

Umphumela kulindeleke ukuthi ube muhle kakhulu uma ukudla kulandelwa eduze, kuqala ngemuva nje kokuzalwa kwengane. Uma ukwelashwa kubambezeleka noma isimo sihlala singelashwa, ukulimala kobuchopho kuzokwenzeka. Ukusebenza kwesikole kungahle kungakhuli kahle.

Uma amaprotheni aqukethe i-phenylalanine engagwenywa, i-PKU ingaholela ekukhubazekeni kwengqondo ngasekupheleni konyaka wokuqala wokuphila.

Ukukhubazeka okukhulu kwengqondo kwenzeka uma ukugula kungalashwa. I-ADHD (ukunakekelwa kokushoda kokungasebenzi kahle kwengqondo) kubonakala kuyinkinga ejwayelekile kulabo abanganamatheli ekudleni okuphansi kakhulu kwe-phenylalanine.

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma usana lwakho lungakahlolwa i-PKU. Lokhu kubaluleke kakhulu uma noma ngubani emndenini wakho enalesi sifo.

Ukuhlolwa kwe-enzyme noma ukuhlolwa kofuzo kunganquma ukuthi abazali baphethe isakhi se-PKU. Isampuli ye-chorionic villus noma i-amniocentesis ingenziwa ngesikhathi sokukhulelwa ukuhlola ingane engakazalwa nge-PKU.

Kubaluleke kakhulu ukuthi abesifazane abane-PKU balandele eduze ukudla okuqinile kwe-phenylalanine ngaphambi kokukhulelwa nakuyo yonke into yokukhulelwa. I-buildup ye-phenylalanine izolimaza ingane ekhulayo, noma ngabe ingane ayizuzanga njengefa isifo esigcwele.

I-PKU; I-phenylketonuria engakazalwa

• Ukuhlolwa kwePhenylketonuria
• Ukuhlolwa kokuhlolwa kwezingane ezisanda kuzalwa

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UKumar V, Abbas AK, Aster JC. Izifo zofuzo nezengane. Ku: Kumar V, Abbas AK, Aster JC, ama-eds. I-Robins Basic Pathology. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 7.

UVockley J, Andersson HC, Antshel KM, et al; I-American College of Medical Genetics neGenomics Therapeutics Committee. Ukushoda kwePhenylalanine hydroxylase: umhlahlandlela wokuxilongwa nokuphathwa. I-Genet Med. 2014; 16 (2): 188-200. I-PMID: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.