I fate metabolism hi a thawk tha em? (Inborn Errors of Metabolism chungchang hi i zir dawn nia)

I fate chu beisei angin a thau lo em ni? Nge a chau reng a, a muhil reng em ni? A châng chuan, heng thil hnung lamah hian damdawi lam thil kan hriat tam loh, mahse a pawimawh hle thei a ni. Vawiin hian chutiang dinhmun chu kan sawi dawn a ni. Chu chu metabolism-a pianpui tihsual a ni a, a nih loh leh damdawi lam hawia sawi chuan Inborn Errors of Metabolism (IEM) tih natna hi a ni. Hlau suh, a hming hi a buaithlak deuh pawh nise, awlsam takin sawi ila.

He ‘metabolic process’ hi eng nge ni?

A awlsam zawngin kan taksa hi motor engine ang a ni. Kan ei leh in hi he engine tichaktu fuel a ni. Metabolism chu he fuel hi lak a, chaknaah a chantir a, taksain a thanlenna atana a mamawh thil siam a, bawlhhlawh paih chhuahna zawng zawng a ni. Hei hian hna a thawh that chuan kan taksa a hrisel a ni.

Chuvangin, inborn error of metabolism (IEM) chu he engine, he metabolic process hmun dangah hian inborn error tenau tak a ni. Hei hian taksain ei tur thenkhat chu chakna ah a chantir tha thei lo a, taksa atanga toxin tha lo tak tak, taksaa awm khawm te chu a paih chhuak thei lo bawk.

IEM quality chi hrang hrangte chu engte nge ni?

Chutiang dinhmun chu za tam tak a awm a ni. Mi tin hi a inang lo vek. Mahse, a chi hrang hrang tlemte chu i hre chiang ang u. Chungte chu enzyme activity tlakchham tak hming chawia an vuah tlangpui.

Engvangin nge hetiang hi a lo awm? He thil hi tu chungah nge thleng?

Hei hi a pawimawh ber a ni. Heng dinhmunte hi genetic mutation avanga lo awm a ni . Chu chu nu emaw, pa lam emaw sual vang a ni lo tihna a ni. Naupang naupai laia cell inthen darh laia inthlak danglamna fiah lo tak tak avanga lo awm a ni.

Kan taksaa genes te hian metabolic process atana mamawh enzyme an tih protein siam turin min hrilh a. Heng enzyme te hi kan taksaa hnathawktu angin han ngaihtuah teh. IEM chungchangah chuan thil thleng chu chu genetic defect avang chuan heng hnathawkte hian hnathawh dan tur dik taka zirtirna an dawng lo.

Hetiang natna lan chhuah dan hi engte nge ni?

Mi tin leh natna chi hrang hrang a zirin symptoms a inang lo thei hle. A chang chuan a lan chhuah dan hi a fiah lo hle thei a, a chang chuan a na hle thei bawk. Heng a lan chhuah dan tlangpui thenkhat chu hetiang hi a ni.

• Growth failure: Thau leh san zawng tihpun loh.
• Chaw chakna:Naupangin bawnghnute ei leh in duh lohna.
• Chauhna leh mutthilh reng: Naupang chu a chau fo va, a thawkrim lo fo bawk.
• Rihna tihtlem.
• Fit (seizures) neih.
• Zun, thawmhnaw, thawkna atanga rim danglam tak: Entîr nân, natna ṭhenkhat chuan rimtui thlum tak an nei thei a, ṭhenkhat erawh chuan rim danglam tak an nei thei thung.
• Pum na leh luak chhuak.

Hetiang symptoms nei naupang zawng zawng hian IEM an nei vek lo a, mahse heng symptoms zinga pakhat emaw a aia tam emaw a awm reng chuan doctor pan nghal a pawimawh.

Engtin nge he dinhmun hi kan hriat theih ang?

Vanneihthlak takin tunlai hian heng natna tam tak hi pian hnu lawkah hriatchhuah theih a ni. Ram thenkhatah chuan hengte hi nau piang thar screening hmanga hmuhchhuah a ni. Sri Lanka-ah pawh heng test te hi natna thenkhatah an ti thin.

Natna hriat theihna atana test hman berte chu:

• Thisen leh zun test (Metabolic testing): Hengte hian taksaa chemical thil awm dan pangngai lo (abnormal chemical substance) lo awm khawmte chu a hmuchhuak thei a ni.
• Genetic testing: Thisen sample emaw, saliva sample emaw hian eng gene nge a chhia tih chiang taka hriat theih nan a pui thei a ni.
• Amniocentesis: Naupai lai hian naute chhehvel amniotic fluid sample tlemte lak theih a ni a, naute hian he natna hi a nei em tih hriat theih a ni.
• Mit enfiah: Mit enfiahna pawh tih theih a ni a, IEM condition thenkhat chuan mit a nghawng thei bawk.

Engtin nge enkawl a nih?

Enkawl dan hi natna chi hrang hrang a zirin a inang lo a, mahse a tum ber chu taksain a tuar theih loh thil a hip luh loh nan leh taksaa toxin awmkhawmte paih chhuah a ni.

1. Ei leh in thlak danglam: Hei hi a enkawlna ber a ni. I ei leh in atanga taksain a process theih loh ei tur (e.g., protein thenkhat, thau) te chu i paih vek a ngai a ni. Hei hian nutritionist leh doctor te thurawn a ngai a ni.

2. Damdawi ei: Taksaa enzyme tlakchhamna thlak nan Enzyme thlakna emaw, toxins paih chhuahna tura puitu damdawi emaw pek theih a ni.

3. Dialysis: A nasat deuh deuh chuan thisenah toxin lo awm khawmte chu machine hmanga paih chhuah a ngai mai thei.

4. Organ transplant: A nasat lutuk chuan liver transplant a ngai mai thei, entirnan.

Engtikah nge Doctor ka hmuh ang?

Nu naupai i nih chuan i naute test theih dan tur doctor nen sawiho rawh.

I fa hian a chunga kan sawi tak symptoms te hi a neih chuan, a bik takin a thanlenna lama harsatna a awm chuan naupang doctor pan ngei ngei tur a ni.

A pawimawh ber: I fain seizure a neih emaw, a chau lutuk emaw a nih chuan damdawi in hnai ber Emergency Treatment Unit (ETU)-ah hruai nghal rawh.

Heng dinhmunte nena nun hi a harsa thei hle a, a bik takin ei leh in chungchangah chuan. Mahse damdawi lam thurawn leh enkawlna dik tak nen chuan heng naupangte hian nun pangngai, hlim takin an khawsa thei a ni.