I naute hian PKU (Phenylketonuria) a nei em? Ngaihtuah buai suh, he thil hi awlsam takin i chhui chhuak ang u!

I naute piang thar i en hian i hlimna chu sawifiah theih loh a ni lawm ni? Mahse, chutih lai chuan naute pian hnua damdawi ina test thenkhat tih thin chungchang i hriat chuan tlem chuan hlauthawng leh hriat duhna i nei thin. Chutiang test pakhat chu PKU test hi a ni. He hming hi i hre lo mai thei. Mahse hei hi fiahna pawimawh tak a ni. Vawiin hian he natna hmuh tur awm lo, PKU an tih hi kan sawi dawn a, mahse a hmaa hriatchhuah a nih chuan a thunun vek theih a, naute pawhin nun hrisel tak a hmang thei a ni.

A awlsam zawngin PKU (Phenylketonuria) hi eng nge ni?

PKU, a nih loh leh Phenylketonuria hi genetic disorder hmuh tur awm lo tak a ni . Nu leh pa atanga rochun a ni. Hetiang natna vei naute hian kan ei protein foods-a awm amino acid phenylalanine chu a ei tha thei lo va, a ti chhe thei lo bawk.

Kan taksa hi factory lian tak angin han ngaihtuah teh. Kan eitur chu a chhunga raw material kan dah te hi a ni. Heng raw materials te hi hnathawk tenau tak tak enzyme an tih te hian kan taksa mamawh thil siam nan an hmang thin. PKU vei naute hian phenylalanine hydroxylase (PAH) tih enzyme bik a siam tlem emaw, a siam chhuak lo emaw a, chu chuan phenylalanine a tichhia a ni.

Chuti a nih chuan eng nge thleng? Phenylalanine hi nu hnute atanga lak chhuah a ni a, a hnuah naute ei tur atanga lak chhuah a ni a, taksa atanga paih chhuah ai chuan thisenah a awm tan thin. Chutianga phenylalanine a punkhawm chuan naute thluak tan toxic a lo ni ta a ni . Enkawl loh chuan thluak a tichhe thei a, harsatna lian tak tak, rilru lama harsatna leh hmasawnna tlai te a thlen thei bawk.

PKU natna lanchhuahna chu engte nge ni?

PKU vei naute chu a pian tirh atangin a hrisel vek niin a lang. Chuvangin, a tir lamah chuan inthlak danglamna hriat tur a awm lo mai thei. Enkawl loh chuan thla thum leh thla ruk inkarah natna lanchhuahna a lang tan ang. Hemi hun chhung hian i naute thanlenna kawngah tlem a tlai tih i hmu mai thei.

Naute kum khat vel a tlin meuh chuan enkawl loh chuan a hnuaia chhinchhiahnate hi a lang thei a ni.

PKU vei nu naupai hian engtin nge a nghawng?

Hei hi thil pawimawh tak a ni. PKU vei hmeichhiain nau a pai a, chutih chhung chuan a PKU condition control a nih loh chuan nu pum chhunga naute chu a nghawng thei a ni. Nu thisena phenylalanine level sang chuan naute a tichhe thei a ni.

Hei hian nau pai theihna a tipung a, nausen piang lai tan pawh harsatna chi hrang hrang a thlen thei bawk.

• Pianpui thinlung natna
• Hmai pianzia inthlak danglamna thenkhat
• Nau piang rit lo
• Lu te tak te (microcephaly) .

Engvangin nge PKU hi a lo awm? Eng nge a chhan?

Kan sawi tawh ang khan PKU hi genetic disease a ni. Kan taksaa `PAH` an tih gene a mutation avanga lo awm a ni. He `PAH` gene hian kan taksa chu phenylalanine tichhe thei enzyme siam turin a hrilh a. Gene-a mutation a awm chuan, chu enzyme chu a lo chhuak lo va, a nih loh leh a siamnaah chhiatna a awm a ni.

He natna hi autosomal recessive pattern-a rochun a ni. A awlsam zawngin hetiang hian a kal a ni:

Naute chuan natna a vei theih nân, an nu leh pa hnên aṭangin gene danglam tak copy khat an dawng tûr a ni . Nu leh pa pakhat chauh atanga gene an hmuh chuan naute hian natna a nei lovang. Mahse, chu nu leh pa chu phurtu a ni thei. Chumi awmzia chu symptoms an nei lo mai thei a, mahse nakin lawkah chuan an fate hnenah gene hi an pe chhuak thei tihna a ni.

Doctor-te hian engtin nge PKU hi an hriat theih?

Tunah chuan nau piang thar screening avang hian PKU hriatchhuah a awlsam tawh hle.

I naute pian atanga darkar 24 leh 72 inkarah damdawi ina doctor emaw nurse emaw chuan i naute kekawr chu needle te tak te hmangin a chil ang a, special card-ah thisen tlemte a la khawm ang . Hei hi ‘heel prick test’ an ti a. He thisen sample hi i naute thisena phenylalanine awm zat enfiah nan hman a ni.

Thisena phenylalanine level a san chuan thisen leh zun test belh lehin a natna hmuhchhuah a ni. A chang chuan, natna thlentu genetic change bik hriat theih nan genetic test pawh tih theih a ni.

PKU enkawl dan tur chu engte nge ni?

PKU damdawi a awm lo. Mahse, chu dinhmun chu dam chhung zawngin a enkawl tha hle . Enkawlna tihtawp a nih chuan symptoms a lo lang leh thei. Enkawlna ber chu ei leh in bik leh a chang chuan damdawi a ni.

1. Phenylalanine tlakchhamna eitur bik

Hei hi PKU enkawlna atana pawimawh ber leh pawimawh ber a ni.PKU vei chuan a dam chhungin phenylalanine tlemna ei leh in a zawm a ngai a ni.

Phenylalanine hi protein -a tel a nih avangin protein tamna ei tur chu tihtlem a ngai a ni .

• Sa, sangha, vawk
• Eggs a ni
• Bawnghnute leh bawnghnute atanga siam (yogurt, cheese) .
• Lentils leh chickpeas ang chi thlai chi hrang hrang
• Soy atanga siam thil chi hrang hrang
• Nuts a ni

Mahse, taksain a thanlen nan protein engemaw zat a mamawh avangin dietitian nen inbiain protein engzat nge i ei theih tih hriat chian a ngai a ni. PKU vei naupang/mi tan chuan chaw ei tur ruahmanna (nutritious meal plan) an siam ang.

PKU vei nausen piang tharte chu phenylalanine awm lohna tur special formula hmanga tan tir nghal tur a ni.

2. Damdawi chi hrang hrang

PKU vei thenkhat tan chuan ei leh in bakah damdawi pawh a \angkai thei hle. Hengte hi Doctor rawtna ang chauha hman tur a ni.

• Sapropterin dihydrochloride (Kuvan®): He damdawi hian damlo thenkhat chu taksaa phenylalanine awm chu a ti chhe thei a. Mahse, he damdawi hi i ei lai hian diet i zawm chhunzawm zel tur a ni.
• Pegvaliase (Palynziq®): Hei hi puitling damlo tan chuan vaccine tha tak a ni. Taksaah phenylalanine ti chhe thei enzyme a pe a ni.

PKU nen hian nun pangngaia nun theih a ni em?

Ni e, a ni ngei ang! PKU hi dam chhung zawnga natna awm ni mahse, a hmaa hmuhchhuah a nih a, uluk taka enkawl a nih chuan hriselna a nghawng dan chu a tlem thei hle.

I dam chhung zawng protein tlem ei leh in zawm chu a châng chuan a harsa thei hle. Mahse, nangmah chauh i ni lo. I doctor leh nutritionist te chu an awm reng che a ni. Tin, PKU vei midangte nena support group-a tel hian thil tawn insem darh leh chakna i neih theih nan a pui thei bawk.

'Diet' in tur bottle leh chewing gum packet thenkhatah chuan "Phenylketonurics: Contains phenylalanine" tih vaukhânna awm chu i hmu tawh mai thei. Hei hi PKU vei te hnenah he product hian aspartame a pai tih hriattirna atan a ni a, hei hian phenylalanine a pai a ni.

I PKU dinhmun chungchangah nangmah emaw i chhungte emaw in lungkham a nih chuan mental health counselor biak hreh suh . Rilru hriselna hi taksa hriselna ang bawkin a pawimawh a ni.