Qee lub sij hawm tag nrho cov kev npaj khov thiab kev cia siab tias muaj kev ntxhov siab rau cov niam txiv tuaj yeem raug hla tawm hauv kev tawm suab. Piv txwv li, ib qho kev mob nyhav yog phenylketonuria.
Ua rau phenylketonuria hauv cov menyuam yaus
Phenylketonuria yog ib hom kab mob caj dab, qhov essence uas yog qhov ua txhaum ntawm cov amino acid metabolism, namely, qhov tsis muaj qhov enzyme phenylalanine hydroxylase, uas yog lub luag haujlwm rau cov kev hloov ntawm phenylalanine, cov khoom muaj nyob hauv cov khoom noj feem ntau ua rau zaub mov noj. Tsis faib cov protein yog ib qho txaus ntshai heev rau tib neeg lub hlwb thiab lub hlwb.
Tus kab mob no tsis tshua muaj - hauv 1 ntawm 7000 tus neeg mob. Hmoov tsis zoo, tus me nyuam muaj tus kab mob no tuaj yeem tshwm hauv cov niam txiv uas muaj kev noj qab haus huv, yog tias nkawd ob leeg muaj tus cwj pwm latent, "sleeping" gene of phenylketonuria.
Cov cim qhia ntawm phenylketonuria
Qhov txaus ntshai ntawm tus kab mob yog tias nws yog tsis yooj yim sua kom paub txog nws thaum lub sij hawm lub sij hawm ntawm cov me nyuam mos tsis muaj kev kuaj tshwj xeeb. Thiab thawj cov paib tuaj yeem tshwm sim hauv 2-6 lub hlis:
- lethargy;
- zawv plab, ntuav;
- tsis muaj zog cov nqaij;
- kev hloov hauv daim tawv nqaij;
- hlwb ruamqauj.
Yog hais tias tus kab mob no tsis tshwm sim rau lub sij hawm thiab tsis pib kho, hlwb ruam ruam tuaj yeem ncav qib siab.
Phenylketonuria: Ntsuam Xyuas
Rau kev kuaj kom paub seb tus kab mob zoo li cas, kev soj ntsuam cov hnyuv loj yog siv - kev tshawb ntawm cov ntshav ntawm tus menyuam mosliab kom muaj phenylalanine. Yog tias cov ntsuas tau tsa, tus me nyuam raug xa mus rau ib tug kws kho mob caj ces kom paub meej txog qhov kev kuaj mob.
Phenylketonuria: kev kho mob
Qhov loj tshaj plaws nyob rau hauv cov kev kho mob ntawm no txaus ntshai tus kab mob yog zoo noj haus nrog phenylketonuria. Tus essence ntawm kev noj haus nyob rau hauv exclusion ntawm cov khoom muaj phenylalanine, uas yog, tag nrho cov khoom noj protein ntawm tsiaj keeb kwm. Kev tsis muaj peev xwm ntawm cov protein yuav tsum muaj cov cim tshwj xeeb amino acid mixtures.
Nrog lub hnub nyoog, qhov cuab lub zog ntawm cov hlab ntsha mus rau qhov tsis muaj protein ntau txo thiab zoo rau txhua tus neeg mob nrog phenylketonuria tom qab 12-14 xyoos hloov mus rau ib qho kev noj haus.