I naute hian PKU a nei em? (Phenylketonuria) - Hemi chungchang hi chipchiar takin sawi ila!

Nausen piang thar nu i ni em? A nih loh leh i chhungte emaw, i thian fa emaw hian hetiang natna hi a nei tih i hre tawh em? Chutiang a nih chuan he thuziak hi i tan a pawimawh hle ang. Vawiin hian Phenylketonuria , a tawi zawngin PKU chungchang kan sawi dawn a, chu chu mi tam takin an hriat tawh leh an thiam loh, mahse hriat tlak tak a ni. Lungngai suh, he thu hi awlsam takin, i hriatthiam theih dan tur angin kan sawi dawn a ni.

PKU (Phenylketonuria) hi eng nge ni? A awlsam zawngin i hrethiam ang u!

A awlsam zawngin, PKU hi genetic condition a ni . Chu chu kan genes-a inthlak danglamna tlemte avanga lo awm a ni tihna a ni. Hei hian kan taksa hian phenylalanine an tih thil chu a khawih tha lo hle a ni .

Tunah chuan phenylalanine hi eng nge ni tih i ngaihtuah tawh mai thei. Amino acid a ni a . Amino acids hi protein siamna atana puitu building block tenau ang mai a ni. Phenylalanine hi kan ei tam takah a awm a, a bik takin protein tamna eitur ah te a awm a. Tin, artificial sweeteners thenkhatah pawh a awm a, aspartame -ah te pawh a awm bawk.

A tlangpuiin mi hrisel takah chuan he phenylalanine hi a mamawh angin a inthen a, taksain a hip lut thei ang bera process a ni. Mahse, PKU vei miah chuan he kalphung hi a thleng dik lo. Tichuan, he phenylalanine hi taksaah a awm khawm tan ta a ni. Tui bawm chhunga pipe khar, tuiin a khat ang mai a ni. He accumulation hian harsatna a thlen thin. A bik takin, thluak hmasawnna a nghawng thei a ni . Enkawl loh chuan `intellectual disability` ang chi dinhmun a awm thei.

PKU chi hrang hrang a awm em?

Ni e, PKU hi chi hrang hrang a awm a, a nasat dan azirin. A chi hrang hrang a zirin symptom pawh a inang lo a, a bik takin enkawlna dawng lote tan chuan a inang lo hle.

A chi lian ber pathum hriat theih a ni a, chungte chu:

• Classic PKU: Hei hi form na ber a ni .
• Moderate or mild PKU: Hei hi a na lo deuh.
• Mild hyperphenylalaninemia: Hei hi natna a nasat loh ber a ni. Enkawlna tel lo pawhin heng mite hian rilru lama harsatna an neih theihna chance a tlem hle.

He PKU natna hian tute nge a nghawng ber?

PKU hi genetic a nih avangin PAH gene copy pahnih a mutations nei apiangin he natna hi an nei thei a ni. Zirna thenkhatah chuan Native American emaw European hnam chhuakte chu an hlauhawmna a sang deuh niin an sawi.

Thil pawimawh dang chu nu naupai, PKU thunun theih loh, a thisena phenylalanine level sang tak tak nei chuan PKU nei lo naute a nei thei a ni.Naute rilru lama hmasawnna a nghawng thei a, piansualna a thlen thei a, harsatna dang a thlen thei bawk. Chuvangin naupai lai hian PKU hi control a pawimawh hle.

PKU hi engtiang chiahin nge a awm?

United States ang ram atanga statistics atanga a lan dan chuan PKU hian nau piang thar 10,000 atanga 15,000 zinga pakhat vel a vei a ni. Sri Lanka ramah hian he thil chungchangah hian statistics dik tak hmuh harsa hle mah se, khawvel hmun dangah pawh hetiang dinhmun hi hmuh tur a awm.

PKU natna lanchhuahna chu engte nge ni? Hlauthawng suh, hei hi hre rawh!

Ram tam takah, Sri Lanka-a damdawi in thenkhatah pawh nausen piang tharte chu PKU an neih leh neih loh hriat nan nau piang tharte screening an nei tawh a, hei vang hian natna lan chhuah hmain an natna hi hriat theih a ni. Chuvangin tun dinhmunah hian symptoms vei hi a tlem hle a ni.

Mahse, he natna hi eng emaw ti taka hriat a nih loh emaw, enkawl loh emaw a nih chuan symptom thenkhat a lang thei. Chungte chu:

• Vun natna te eczema ang chi te .
• Vun leh/ emaw sam rawng inthlak danglam ( chhungkaw member dangte aiin vun leh sam a hring chhuak ).
• Lu lian zawng chu a tlangpui aia te zawk (microcephaly) .
• Thâwk, vun, zun aṭanga rimtui lo chhuak . Thil hlui ang maiin a rim a nam.

Enkawl loh chuan a natna lan chhuahna na ber berte chu:

• Nungchang lama harsatna a awm .
• Developmental delays - Chumi awmzia chu naute thanlenna atana thil pawimawh tak tak, nuihzatthlak, lu chawi sang, leh kal te chu a tlai tihna a ni.
• Thinlung lama harsatna nei te .
• A tlem berah chuan epilepsy ang chi seizures a awm thei.

Pawimawh: Hêng chhinchhiahna tam tak hi enkawl loh a nih chauhvin a awm tih hre reng ang che. Tunlai hian nau piang thar screening hian hei hi a hriat hma thei a, chuvangin ngaihtuahawm tur a awm lo.

PKU awm chhan dik tak chu eng nge ni?

PKU thlentu ber chu kan taksaa PAH gene copy pahnih a mutation vang a ni. He PAH gene hian kan taksa chu phenylalanine hydroxylase tih enzyme siam turin a hrilh a ni . He enzyme hian kan ei thin amino acid phenylalanine chu taksain a hman theih protein ah a chantir thin.

Chuvangin, he PAH gene hian hna a thawk tha lo a nih chuan enzyme a siam chhuak lo emaw, a thawk tha lo emaw a ni. Tichuan, chaw atanga phenylalanine chu taksaah a pung khawm ta a ni. Kan taksa, a bikin thluak hian phenylalanine tam lutuk hi a sensitive hle. Chuvang chuan thluak hi a chhiat phah thei a ni.

Engtin nge PKU hi genes hmanga kai theih?

PKU chu eng nge ni?Nu leh pa atanga fate hnena autosomal recessive pattern-a rochun genetic condition. Hei hi scientific term ang deuhin a lang thei a, mahse a awlsam zawngin hetiang hi a ni:

Ngaihtuah teh, PKU thlentu gene hi "p" an ti a. Gene hrisel tak chu "P" an ti a.

PKU nei tur chuan naupang chuan nu leh pa atanga "p" gene a dawng tur a ni (chu chu "pp" a ni tur a ni).

Thil tam takah chuan nu leh pate hi he PKU gene hi kengtu an ni thei. Chumi awmzia chu, "Pp" angin gene an nei thei tihna a ni. PKU symptoms an nei lo, a chhan chu "P" gene hrisel tak hian hna a thawk a ni. Mahse, chu "p" gene chu an fate hnenah an pass thei a ni.

Chuvangin, nu leh pa pahnih hi carrier (Pp x Pp) an nih chuan, fa an neih hunah:

• Naupangin PKU (pp) a vei theihna chance 25% a awm.
• Naupang chu carrier (Pp) a nih theihna chance 50% a awm - symptoms a awm lo.
• Naupang hian genes hrisel (PP) pahnih - PKU nei lo, leh carrier a nih loh theihna chance 25% a awm.

Chuvang chuan nu leh pa pahnih atanga lo chhuak tur thil a ni.

Engtin nge PKU i vei tih i hriat theih ang?

A tam zawkah chuan PKU hi nau piang thar screening test hmanga hriat theih a ni a, chu chu naute pian hnu darkar 24 leh 72 inkarah tih a ni . Hei hian naute kekawrte chu zungbun te tak te hmanga hliam a, thisen tlemte lak a huam a ni . Hei hian naute thisena phenylalanine awm zat a enfiah thin.

• Naute thisenah phenylalanine a sang tih hmuhchhuah a nih chuan doctor-te chuan PKU dinhmun finfiah nan test dang (thisen emaw zun emaw test) an nei ang a, chubakah PKU chi hrang hrang a nih thu an hre bawk ang.
• PKU hi genetic condition a nih avangin genetic test hmangin a symptoms thlentu gene mutation dik tak chu hriat theih a ni.

Nau piang thar screening test an tih loh chuan PKU hi kum eng pawha hriat theih a ni a, mahse a hmaa hmuhchhuah a nih chuan a tha zawk.

PKU tan hian eng enkawlna nge awm?

PKU enkawl hi dam chhung zawnga tih tur a ni. Mahse lungngai suh, uluk taka enkawl a nih chuan nun hrisel tak i hmang thei ang. Enkawlna atan hian:

1. Special diet: Hei hi a pawimawh ber a ni. Phenylalanine tlem mahse nutrient dang tamna diet i ei a ngai a ni .

2. Vitamins, minerals, leh nutritional supplements: Hengte hi i mamawh nutrients i hmuh theih nan a tul a, dieting hian nutrients thenkhat i hloh phah thei a ni.

3. Damdawi: Mi thenkhat chu sapropterin dihydrochloride (Kuvan®) ang chi damdawi pek an ni thei. Hei hian taksain phenylalanine a ti chhe thei a ni.

4. Damdawi Pegvaliase (Palynziq®) tih chu:He damdawi ei thinte hian ei leh in bik khapna awm lovin an ei dan pangngaiin an ei thei a ni. Hei hian PKU vei taksaa thawk tha lo phenylalanine tichhiatu enzyme a thlak a ni.

Nangmah emaw i fa emaw hian PKU i nei a nih chuan i doctor leh dietitian te nen thawk hovin enkawlna tha ber siam tur a ni.

Eng ei tur nge phenylalanine awm? Hengte hi i fimkhur ang u!

PKU vei (`Pegvaliase` tih damdawi an ei loh chuan) hian phenylalanine tamna ei tur an tihtlem a ngai a ni. Hengte hi protein tamna ei turah a awm tam ber. Entir nan:

• Bawnghnute leh bawnghnute atanga siam (cheese, yogurt) .
• Eggs a ni
• Nuts (peanut, cashew ang chi) 1.1.
• Sangha
• Ar
• Bawngsa
• Legumes te hi bean leh lentils ang chi te an ni
• Aspartame, artificial sweetener (sugar tel lo in tur leh ei tur thenkhatah pawh a awm thei) .

PKU vei tan chuan special diet a awm em?

Ni e, a dik tak zet. PKU vei (damdawi `Pegvaliase` ei lo) chuan protein tlem ei tur a zawm tur a ni . Protein tamna ei tur sa, sangha, artui, leh bawnghnute atanga siam te hi a theih ang anga tihtlem tur a ni a, a nih loh leh tihtawp vek tur a ni.

Mahse hei hi a lan dan angin a awlsam lo. A chhan chu protein hi taksa tan a pawimawh em em a ni. Chuvangin doctor emaw dietitian emaw biak a, taksa mamawh nutrient dang zawng zawng pe thei tur balanced diet siam hi a pawimawh hle. PKU vei naute tan hian special formula a awm a, phenylalanine a tlem a, mahse nutrient tul dang a la pai tho.

Ngaihtuah teh, in lamah PKU nei naute te tak te i nei a. A chaw i pek danah engtiang chiahin nge i fimkhur a ngaih? Food package tin i en a ngai a, phenylalanine engzat nge a awm tih i hriat a ngai bawk. Inthawina lian tak a ni a, mahse naupang hmalam hun atan chuan a phu a ni.

PKU hi ven theih a ni em?

PKU hi genetic a nih avangin he natna hi lo awm tur venna tur a awm lo.

Mahse, naupai i tum a nih chuan genetic counselling leh carrier screening hmangin i kawppui nen PKU gene in nei em tih hriat theih a ni. Hei hian PKU vei fa neih theihna tur risk i hriatthiam theih nan a pui ang che.

PKU vei hian eng ang hmalam hun nge a beisei theih ang?

Hei hi mi tam takin harsatna an neih a ni. PKU hi dam chhung zawnga natna awm ni mahse, uluk taka enkawl a nih chuan mi tam zawk chuan hrisel, nun pangngai an hmang thei a ni.

• Diagnosis hnuah thisen test neih fo a ngai a, thisenah phenylalanine level enfiah a ngai a ni . Hei hi ei leh in dan dik taka zawm a nih leh nih loh leh damdawi a thawk tha em tih i hriat theih dan a ni.
• Diet hmangtute tan chuan dietitianAnmahni nena thawhhona tha tak neih hi a \angkai hle. Eng ei tur nge ei tur tih te, ei loh tur te, leh i taksa mamawh ei leh in tur i hmuh theih dan tur te chiang takin an hrilh che a ni.
• PKU vei hmeichhia a naupai chuan a doctor leh nutritionist te chuan an thawkdun ang a, chu chuan nuin a mamawh ei leh in a hmuh theih nan leh naute tana harsatna awm thei zawng zawng a tihtlem theih nan special diet plan an siam ang.

Engtin nge PKU lakah hian keimah/ka fa hi ka inven theih ang?

PKU diagnosis hi dam chhung zawnga awm tur a nih avangin doctor nena inbiak reng a pawimawh a, i thisena phenylalanine level enfiah a pawimawh bawk.

• Diet i tih chuan protein tlakchhamna phuhruk nan vitamin leh supplement tul tak tak ei thin ang che.
• He diet hi i dam chhung zawng zawm rawh. Chutiang a nih loh chuan symptoms a lo lang leh thei a, i hriselna atan hlauhawm tak a ni thei bawk.
• Chhungkaw din i ngaihtuah a nih chuan i doctor nen genetic testing chungchang sawipui rawh , chu chuan PKU vei fa neih theihna tur i hriatthiam theih nan a pui thei che a ni.

Engtikah nge doctor i hmuh ang?

• Nangmah emaw i fa emaw hian PKU (kan sawi tawh ang khan) nena inzawm symptoms i neih chuan doctor pan nghal la, enfiah kim vek rawh.
• I naupai hmain, emaw, i naupai tirh lamah emaw, i doctor hnenah carrier screening chungchang i zawt thei a, chu chuan nang leh i kawppui chu PKU vei fa neih theihna tur hlauhawm in nih leh nih loh hriat theih nan a pui thei a ni.
• PKU i neih chuan doctor pan fo la, thisen test leh monitoring neihpui thin ang che .

Doctor hnenah eng zawhna nge ka zawh ang?

PKU chungchang emaw, i fate PKU status chungchanga zawhna i neih chuan zawh hreh suh. Entirna thenkhat chu hetiang hi a ni:

• " Engtin nge ka naute hian hrisel taka a awm theih nan nutrition dik tak a dawng tih ka hriat chian theih ang?"
• "Kei/ka fa hian vitamin emaw nutritional supplement emaw ei belh a ngai em?"
• "Protein tlem ei hi ka/ka fate phenylalanine level tihhniam nan a tawk em, a nih loh leh damdawi pawh ka ei a ngai em?"
• "He chaw bik ka buatsaih dawn hian eng thil nge ka fimkhur ang?"
• "Naupang chu sikul kal tur a nih chuan engtin nge an ei leh in chungchang chu sikul hriattir tur?"

A tirah chuan phenylalanine tel lo ei tur thlan chu a harsa deuh thei a, mahse doctor leh nutritionist nena in thawh dun chuan i thiam tawh ang.

A tawp berah chuan hriat reng tur pawimawh thenkhat (Take-Home Message) .

PKU hi dam chhung zawnga natna awm ni mahse, hlawhtling taka enkawl theih a ni. A pawimawh ber chu a hmaa hriatchhuah a, uluk taka enkawl hi a ni.

• Nau piang thar screening neih a pawimawh hle. PKU ang chi natna dang a hmuchhuak hmasa thei a ni.
• PKU i vei tih i hriat veleh damdawi lam thurawn leh nutritionist kaihhruaina zawng ngei ang che .
• Ei leh in leh a tul chuan dam chhung zawnga damdawi hman khauh taka zawm hi i emaw i fa emaw thluak hrisel taka thanlenna atan a pawimawh hle.
• Thisen test reng reng hmangin i phenylalanine level enfiah thin ang che .
• Nangmah chauh i ni lo. PKU vei midang leh an chhungte nena inzawmna siam hi support group -a i tan chakna leh fuihna nasa tak a ni thei a ni .
• PKU vei naupang nu leh pa i nih chuan i fa chu he dinhmun hi dawhtheihna leh hmangaihna nen nunpui turin zirtir rawh .

He thu hian PKU (Phenylketonuria) chungchang hriatthiamna tha zawk a neih theih ka beisei. Hriselna lama harsatna eng pawh dona atana hmanraw tha ber chu awareness hi a ni tih hre reng ang che!

` PKU, Phenylketonuria, phenylalanine, genetic diseases, nausen piang thar, ei leh in, protein tlem ei leh in, nau piang thar screening