Phenylketonuria

Phenylketonuria (PKU) ndizosowa zomwe mwana amabadwa popanda kuwononga bwino amino acid wotchedwa phenylalanine.

Phenylketonuria (PKU) imachokera, zomwe zikutanthauza kuti imadutsa m'mabanja. Makolo onse ayenera kupereka mtundu wosagwira wa jini kuti mwana akhale ndi vutoli. Izi zili choncho, ana awo ali ndi mwayi 1 mwa 4 wokhudzidwa.

Ana omwe ali ndi PKU akusowa enzyme yotchedwa phenylalanine hydroxylase. Ndikofunikira kuti athane ndi amino acid phenylalanine. Phenylalanine imapezeka mu zakudya zomwe zimakhala ndi mapuloteni.

Popanda enzyme, milingo ya phenylalanine imamangika mthupi. Izi zimatha kuwononga dongosolo lamanjenje lamkati ndikuwononga ubongo.

Phenylalanine amatenga gawo pakupanga kwa melanin. Mtunduwo umakhala ndi khungu ndi tsitsi. Chifukwa chake, makanda omwe ali ndi vutoli nthawi zambiri amakhala ndi khungu lowala, tsitsi, ndi maso kuposa abale kapena alongo omwe alibe matendawa.

Zizindikiro zina zitha kuphatikiza:

• Kuchepetsa luso lamaganizidwe komanso chikhalidwe
• Kukula kwa mutu kumakhala kocheperako kuposa zachilendo
• Kutengeka
• Kuthamanga kwa mikono kapena miyendo
• Kulemala m'maganizo
• Kugwidwa
• Ziphuphu pakhungu
• Kugwedezeka

Ngati PKU sakuchiritsidwa, kapena ngati zakudya zomwe zili ndi phenylalanine zimadyedwa, mpweya, khungu, sera ya khutu, ndi mkodzo zitha kukhala ndi "mousy" kapena "musty" fungo. Fungo limeneli limachitika chifukwa cha kuchuluka kwa zinthu za phenylalanine m'thupi.

PKU imapezeka mosavuta poyesa magazi mosavuta. Mayiko onse ku United States amafunika kuyesa mayeso a PKU kwa ana onse obadwa kumene ngati gawo lowunikira kumene akhanda. Kuyesaku kumachitika ndikutenga magazi pang'ono kuchokera kwa mwanayo mwana asanatuluke mchipatala.

Ngati kuyezetsa kuli koyenera, kuyezetsa magazi ndi mkodzo kumafunikira kutsimikizira kuti ali ndi vutoli. Kuyezetsa magazi kumachitidwanso.

PKU ndi matenda ochiritsika. Chithandizo chimaphatikizapo chakudya chomwe chili chotsika kwambiri mu phenylalanine, makamaka pamene mwana akukula. Zakudyazo ziyenera kutsatiridwa mosamalitsa. Izi zimafunikira kuyang'aniridwa bwino ndi katswiri wazakudya kapena dokotala, komanso mgwirizano wa kholo ndi mwana. Omwe amapitiliza kudya mpaka munthu wamkulu amakhala ndi thanzi labwino komanso labwino kuposa omwe sakhala pamenepo. "Zakudya zamoyo wonse" ndi mkhalidwe womwe akatswiri ambiri amalimbikitsa. Amayi omwe ali ndi PKU amafunika kutsatira zomwe adadya asanatenge pathupi komanso pakati.

Pali phenylalanine wambiri mumkaka, mazira, ndi zakudya zina wamba. Chopangira chotsekemera NutraSweet (aspartame) mulinso phenylalanine. Zogulitsa zilizonse zomwe zili ndi aspartame ziyenera kupewedwa.

Pali njira zingapo zapadera zopangira ana omwe ali ndi PKU. Izi zitha kugwiritsidwa ntchito ngati gwero lamapuloteni lomwe lili lotsika kwambiri mu phenylalanine komanso loyenera kwa amino acid otsala. Ana okalamba ndi akulu amagwiritsa ntchito njira ina yomwe imapatsa mapuloteni mu kuchuluka komwe amafunikira. Anthu omwe ali ndi PKU amafunika kutenga chilinganizo tsiku lililonse pamoyo wawo wonse.

Zotsatira zake zikuyembekezeka kukhala zabwino kwambiri ngati chakudyacho chikutsatiridwa bwino, kuyambira mwana akangobadwa. Ngati mankhwala akuchedwa kapena vutoli silinalandiridwe, kuwonongeka kwa ubongo kumachitika. Kugwira ntchito kusukulu kumatha kukhala kovutirapo.

Ngati mapuloteni okhala ndi phenylalanine sapewedwa, PKU imatha kubweretsa kulemala kwamaganizidwe kumapeto kwa chaka choyamba cha moyo.

Kulemala kwamaganizidwe kwakukulu kumachitika ngati vutoli silichiritsidwa. ADHD (chisamaliro-kuchepa kwa kuchepa kwa chidwi) imawoneka ngati vuto wamba kwa iwo omwe samamamatira ku chakudya chotsika kwambiri cha phenylalanine.

Itanani yemwe akukuthandizani ngati mwana wanu sanayesedwe PKU. Izi ndizofunikira makamaka ngati aliyense m'banjamo ali ndi vutoli.

Kuyesa kwa enzyme kapena kuyesa kwa majini kumatha kudziwa ngati makolo ali ndi jini la PKU. Chorionic villus sampling kapena amniocentesis itha kuchitidwa panthawi yapakati kuti ayese mwana wosabadwa wa PKU.

Ndikofunikira kwambiri kuti amayi omwe ali ndi PKU azitsatira mosamalitsa zakudya zotsika kwambiri za phenylalanine onse asanakhale ndi pakati komanso nthawi yonse yomwe ali ndi pakati. Kupanga kwa phenylalanine kumawononga mwana yemwe akukula, ngakhale mwanayo sanatengere matenda onsewa.

PKU; Neonatal phenylketonuria

• Phenylketonuria mayeso
• Kuyesedwa kwatsopano kwa ana

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Zofooka zamagetsi zama amino acid. Mu: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 103.

Kumar V, Abbas AK, Aster JC. Matenda achibadwa ndi ana. Mu: Kumar V, Abbas AK, Aster JC, olemba, eds. Matenda a Robins Basic. 10th ed. Philadelphia, PA: Elsevier; 2018: mutu 7.

Vockley J, Andersson HC, Antshel KM, ndi al; American College of Medical Genetics ndi Genomics Therapeutics Committee. Kuperewera kwa Phenylalanine hydroxylase: kuwunika ndikuwongolera malangizo. Mtundu Med. 2014; 16 (2): 188-200. PMID: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.