I naute hian bawnghnute sugar ei harsatna a nei em? Galactosemia chungchang hi han sawi ila!

Nausen piang thar chaw pek hian, nu hnute emaw, formula emaw pawh nise, a chang chuan harsatna tlemte chauh a awm thin a ni lawm ni? Ngaihtuah teh, i naute hian bawnghnutea sugar chi khat a ei theih loh chuan engtin nge ni ang? Ni e, a thleng thei. Galactosemia chu bawnghnutea sugar chi hrang hrang ‘galactose’ an tih chu ei theih lohna a ni. Hei hi natna khirh tak a ni thei a, mahse a hmaa hriat chian a nih chuan naute hian harsatna lian tak tak a neih theih tam tak chu kan tihtlem thei a ni.

Hetiang dinhmun hian naute taksa hi engtin nge a nghawng?

A awlsam zawngin, i naute taksain ei tur, a bik takin bawnghnutea awm sugar galactose chu a ti chhe thei lo va, chakna-ah a chantir thei lo a nih chuan thisenah a pungkhawm tan thin. Dik tak chuan 'galactosemia' tih thumal hi a awmzia takah chuan "thisen chhunga galactose awm" tihna a ni. Chuvangin thisenah galactose a lo punkhawm chuan taksa pum puiah a darh vek a ni. Tichuan, enzyme pakhat, galactose nena thawk dun lo chuan he galactose hi alcohol-ah a chantir a, chu chu ‘galactitol’ an ti a ni. He galactitol hi taksa tan toxic a ni.

He galactitol tha lo tak hi naute taksa peng leh taksa peng hrang hrangah a lo awm khawm chuan a tichhe tan thin. Enkawl loh chuan galactosemia hian side effect na tak a thlen thei a, chungte chu:

• Mitdel (cataract) a awm .
• Hmasawnna lama tlai lutuk .
• Thinlung lama harsatna nei te .
• Thusawi harsatna .
• Fine leh gross motor harsatna, chu chu fine motor skills, kea kal leh tlan danah harsatna tihna a ni .
• Neurological lama harsatna nei te .
• Kidney natna a ni .
• Naupang hmeichhiaah hian a hun hmaa ovarian insufficiency a awm .
• Liver a tha lo .
• Sepsis hi natna khirh tak a ni.

He dinhmun hi hriat hmasak a pawimawhzia hi han ngaihtuah teh! I hriat hma a, i naute ei leh in atanga galactose i paih chhuak a, uluk taka enkawl chuan heng harsatna tam tak hi i veng thei a ni.

Mahse, a hmaa hriatchhuah leh enkawl a nih pawhin naupang thenkhat chuan harsatna tenau an nei chhunzawm zel thei a ni. Hei hi a chhan chu kan ei leh in atanga galactose hi paih vek mah ila, kan taksa hian galactose tlemte chu a pianphungah a la siam chhuak tho a ni. Hei hi endogenous galactose an ti a . Chuvangin naupang enkawl an nih chuan a chang chuan hetiang hian an nei thei a ni.

• Thusawi a tlai.
• Zirna lama harsatna nei te.
• Nungchang lama harsatna a awm.
• Balance leh coordination lama harsatna ( ataxia ).
• Tremors a awm .
• Hormone tlakchhamna, a bik takin hmeichhe naupang puitlin hun sawn hlat.

Engtin nge galactosemia hian puitlingte a nghawng?

Galactosemia vei puitlingte chu nun pangngai an hmang thei a ni. Mahse, naupan laia symptom nei tawhte chuan an dam chhung zawngin harsatna engemaw zat an nei thei a ni. Symptom thenkhat chu an ei leh in an control dan azirin a na zawk emaw, a na zawk emaw a ni thei. Mahse, hormone tlakchhamna ang chi thil hi a awm fo a, enkawlna nen pawh.

Vawi tam tak chu galactosemia vei hmeichhiate hian natna hi hriatchhuah leh enkawl hmasak pawh ni se, an ovary-ah harsatna an nei thei a ni. Hei hi primary ovarian insufficiency an ti a . Hei hian nau pai leh naupai enkawl a harsat phah thei a ni. Tin, thlasik hun tihreh nan hormone replacement therapy pawh a ngai thei bawk. He hormone therapy hian nau neih harsatnaah pawh a pui thei bawk.

He natna hi tuin nge vei? Engtiang chiahin nge a hluar?

Galactosemia hi genetic disorder a ni a . Rochun a ni. Naupang chuan he natna hi a nei ang a, chu chu a nu leh pa pahnihin mutated gene an rochun chuan a ni. I nu leh pa pahnih hi mutated gene kengtu an nih chuan galactosemia vei theihna chance 25% i nei a ni. Hnam tin mite a nghawng thei a ni.

A na ber ber , classic galactosemia an tih hi a tlem deuh hlek a ni. A tlangpuiin mi 45,000 zinga 1 velin a nghawng a ni.

A nasat loh deuh deuh Duarte galactosemia tih a awm bawk . Tlem a tam zawk a, mi 4,000 zinga 1 velin a nghawng a ni. Galactose ei theih lohna tak tak a ni lo va, a laka sensitivity a ni zawk.

Nausen piang thar galactosemia vei hian eng natna nge a neih?

Nausen piang tharin classic galactosemia a neih chuan an hnute pek atanga ni engemaw zat chhungin symptoms an lantir tan ang. Heng symptoms te hi a hun hunah a danglam thei:

• Chaw chu a thlum lo.
• Mutthilh fo thin, rilru hahna .
• Luak chhuak.
• Kawthalo.
• A taksa rihna tihtlem nasa tak.
• Chaklohna.
• Hlawhtlin lohna .
• Jaundice ( jaundice ) tih awmzia chu vun sen tihna a ni.
• Liver a hring chhuak.
• Pum chhunga a hring ( ascites ).
• Thluak vel a hring ( edema ).

Heng symptoms zinga pakhat tal i neih chuan doctor pan nghal tur a ni.Doctor-in hei hi galactosemia a nih thu a hriat hnuah, naute ei leh in atanga galactose lakchhuah a nih veleh heng natna lanchhuahna te hi a reh tur a ni.

Eng thilin nge galactosemia hi a thlen?

Hei hi a chhan ber chu gene mutation vang a ni . Chu chu genes inthlak danglamna a ni. Hei hi nu leh pa hnen atanga rochun a ngai a ni. Nu leh pa pahnihte hi he gene hi kengtu an ni thei a, mahse symptoms an lantir lo mai thei. Chuvangin naute hian hetiang dinhmun hi a neih chuan mak tihna lian tak a ni thei.

He gene danglam tak avang hian sugar galactose chu energy-a chantir nana enzyme mamawh chu taksaah a siam tha lo hle. Tichuan, galactose atanga siam chemical te chu taksaah a pung khawm a. Hemi kawngah hian gene chi hrang hrang pathum a inrawlh a. Chumi ang chuan Galactosemia pawh hi chi thum ah then a ni bawk.

Galactosemia chi hrang hrangte chu engte nge ni?

Type I (Classic Galactosemia) tih a ni a, a chhuahna tur hmun hi a lar hle.

Hei hi galactosemia vei tam ber leh na ber a ni . Classic galactosemia an ti bawk. GALT gene a mutation avanga lo awm a ni . He gene hian enzyme a siam a, chu chuan sugar galactose chu glucose ang chi hman theih thilah a ti chhe vek a ni. Hetiang chi ah hian enzyme hi a awm lo vek tawh mai. Chuvang chuan taksain galactose a digest thei lo va, a khawlkhawm thuai thin.

Type II (Galactokinase tlakchhamna) 1.1.

He chi hnihna hi GALK1 gene a mutation vang a ni . He gene atanga enzyme siam te hian galactose digestion ah a pui thin. Hetiang chi hian chi khatna aiin hriselna lama harsatna a nei tlem zawk. A hlauhawm ber chu mitdel (cataract) lo awm hi a ni.

Type III (Galactose epimerase tlakchhamna) 1.1.

Hemi kawngah hian GALE gene hi a inrawlh a ni. Hei hian galactose ei tur siamtu enzyme a siam bawk. Heng enzyme te hi tihtlem a nih chuan galactose chu taksaah a pungkhawm thin. He chi thumna hian a chang chuan symptoms na lo tak tak a thlen thei a, mahse a chang chuan symptoms na tak tak a thlen thei bawk. A nasat chuan type 1 ang bawkin mitdelna, hmasawnna tikhawtlai, rilru lama harsatna, thin natna, kal lama harsatna te a thlen thei a ni.

Duarte galactosemia vang a ni

Hei hi classic galactosemia thlentu GALT gene khata mutation vang pawh a ni. Mahse, hetiang a nih chuan genetic mutation hi chutiang chuan a na lo. Galactose digest tu enzyme hi a activity a tlahniam a, mahse a awm lo vek thung. Duarte galactosemia vei te hian galactose awmna ei tur an ei hian pum na tenau an nei thei a, mahse chi dang angin hriselna lama harsatna lian tham an tawk lo. An ei leh in atanga galactose tihbo an ngai hauh lo.

Engtin nge Galactosemia hi hmuhchhuah a nih?

United States ang ram changkang zawkah chuan nausen piang thar apiang chu heng natna hrang hrang hi screening an nei vek a ni. Heng test te hian symptoms a lan hmain heng conditions te hi a hre thei a ni. Hei hi PKU test tia sawi a ni \hin a, a chhan chu natna dang, phenylketonuria te pawh a hmuchhuak thei a ni.

He test hi naute kekawr atanga thisen tlem te tak te lak atanga tih a ni. Hei hi naute pian atanga darkar 24 vel hnuah tih thin a ni tlangpui. I naute hian galactosemia a vei a nih chuan thisen test-ah GALT enzyme activity a hniam tih a lang ang. Chumi hnuah medical team chuan naute hian eng ang galactosemia nge a neih tih hriat tumin genetic testing an nei ang. Sri Lanka rama damdawi in thenkhatah chuan hetiang test hi tih theihna tur facility an nei a, a nih loh leh i doctor hnenah i zawt thei bawk.

Engtin nge galactosemia hi enkawl a nih?

Hei hi enkawlna awmchhun chu galactose hi ei leh in atanga paih vek hi a ni . Galactose hi bawnghnutea sugar awm lactose an tih zingah a tel a, chuvangin bawnghnute atanga siam zawng zawng deuhthaw tihbo a ngai tlangpui. Chumi awmzia chu nu hnute, bawnghnute, yogurt, cheese emaw i pe thei lo tihna a ni. Nausen piang tharte chu soy-based formula emaw, specially formulated elemental formula emaw pek theih a ni.

Naupang leh puitling bawnghnute atanga siam ei lote chuan calcium leh vitamin D an tlachham thei a, chuvangin supplement ei a ngai mai thei. Hei hian ruh a nghet reng theih nan a pui a ni.

Hun rei tak chhunga side effect awm thei tur chuan eng ang enkawlna nge mamawh?

Naupang ṭhenkhat chu an lo puitlin chhoh zêl a zir tûr leh hmasawn tûrin ṭanpuina dang an mamawh mai thei. Chumi awmzia chu:

• Thusawi hmanga enkawlna .
• Occupational therapy tih awmzia chu nitin hnathawhnaah tanpui tihna a ni.
• Thiltih dan hmanga enkawlna .
• Zirna tur ruahmanna siam .

Naupang tê tê, a bîk takin hmeichhe naupangte chuan puitlin leh thlasik hun an neih theih nân hormone therapy an mamawh mai thei.

Galactosemia hi ven theih a ni em?

Genetic condition a nih avangin nangmah emaw, i fa emaw chuan i rochun dawn leh dawn loh chu i thunun thei lo. Mahse, nang leh i kawppui nen hian fa in neih hmain mutation hi in nei em tih enfiah turin genetic testing in nei thei ang. Carrier i ni thei a, mahse symptom i nei lo mai thei. Hei hi i hriat hma chuan i fate’n an rochun theih dan tur i ruahman thei ang. Genetic counseling hian he thil hi a hriatthiam theih nan a pui thei che a ni. He natna hi a hmaa hriatchhuah hi a tha lo thei tur tihziaawmna tha ber a ni.

Galactosemia vei dam rei zawng chu engzat nge ni ang?

Natna hi a hmaa hriatchhuah a nih a, galactose tel lo ei leh in zawm a nih chuan dam rei zawng chu thil pangngai a ni. Mahse, nau piang thar hun chhungin permanent organ damage a awm chuan hun rei tak hriselna a nghawng thei a ni.

Galactosemia vei puitlingte hian engtin nge an in enkawl?

Galactosemia vei tu tan pawh thil pawimawh ber chu galactose tel lo ei leh in khauh tak neih hi a ni . Hei hian discipline tam tak a mamawh a ni. Puitling tam tak chuan anmahni ang miten recipe leh thil tawn an insem theihna khawtlang zawm hi a \angkai hle niin an hria. Symptoms a awm reng chuan hetiang social support hi a hlu hle.

Puitling galactosemia vei te chuan an doctor pan fo tur a ni a, a natna lan chhuah dan enfiah thin tur a ni. Heng test-ah hian:

• Mit enfiah (cataracts tan).
• Nervous system hnathawh dan test (executive function, attention deficit/hyperactivity disorder (ADHD) , tremors, leh ataxia ang chi thil atan).
• Bone density test (calcium leh mineral tlakchhamna nei tan).
• Hormone level enfiah (a bik takin hmeichhiaah).

Hetiang taka check fo thin hian a tlakchhamna eng pawh chu a hmain hriatchhuah theih a ni a, a nasat hmain enkawl theih a ni.

Galactosemia hi natna awm lo tak ni mahse, genetic test hmangin a hmaa hriat theih a ni. Naupai emaw, nau neih tum emaw i nih chuan nang leh i kawppui nen galactosemia gene test theih a ni. In pahnih hian gene hi in nei a nih chuan in fain a neih theihna chance 25% a awm. Awareness hi chakna lian ber a ni. Hei hian he natna hlauhawm ber berte pumpelh nan ruahmanna siam lawk turin a pui thei che a ni.

I naute piang thar chu he natna hi a vei tih hmuhchhuah a nih chuan rilru natna (shock, confusion) nasa tak i nei thei a ni. Galactosemia hi beisei loh tak a ni fo a, a bik takin chhungkaw history-a he natna hi a awm loh chuan. A tlem avangin doctor zingah pawh a chang chuan under-diagnoseed a ni thei. Mahse, a hmaa hmuhchhuah a nih chuan galactosemia-in a nghawng na ber chu a veng thei a ni.

Diet management dik tak i neih chuan i fa chu nun pangngai tak a hmang thei a ni. Hmasawnna lam thil thenkhat a awm thei a, chu chuan therapy dang a mamawh thei bawk. Hêng beisei loh harsatnate hi nu leh pate tân chhan hrang hrang avângin a lo thleng thei a ni. Mahse, chutiang dinhmun chu i hriat chian chuan, chutiang harsatnate chu a hmain i inbuatsaih thei a, i hre hmasa thei a, a ṭha ber tûrin i inrawlh hma thei bawk.

He thuziak atanga hriat reng tur pawimawh ber berte (Take-Home Message) .

Okay, chuti a nih chuan tunah chuan kan sawi thin kha i hrethiam zawk tawh a, Galactosemia. Hriat reng tur pawimawh thenkhat chu hetiang hi a ni:

• Hriat hmasak hi nunna chhanhimtu a ni: Nausen piang thar screening hian hei hi a hriat hma thei a, chu chuan harsatna lian tham tam tak a veng thei a ni.
• Dietary control a pawimawh: Galactose tel lo (a bik takin lactose tel lo) diet hi dam chhung zawngin zawm a ngai a ni.
• Genetic counseling hi a pawimawh: Chhungkaw din hmaa genetic testing neih tir hian nu leh pate chuan naupangin he natna hi a rochun theih dan tur an hre thei a ni.
• Hun rei tak chhung tanpuina: Naupang thanlen dan, a zir dan leh a hriselna zawng zawng hi enfiah reng tur a ni. A tul chuan therapeutic support pek tur a ni. Puitling tan pawh medical check-up neih fo leh support group atanga tanpuina neih hi a pawimawh hle.
• Nangmah chauh i ni lo: He dinhmun hmachhawn hi thil harsa tak a ni thei. Mahse, doctor, nutritionist, therapist leh hmangaih tak takte puihnain he zinkawng hi tihhlawhtlin theih a ni.

Ngaihtuah buai suh, hriatthiamna leh hmalakna dik tak nen chuan galactosemia vei naupang leh puitling pawhin nun tha tak an hmang thei a ni.

` Galactosemia, Galactosemia, nausen piang thar, genetic diseases, enzymes, metabolic diseases, ei leh in, nausen piang thar screening, genetic disorder