I fa hian inherited metabolic disorder a nei em? (Inherited Metabolic Disorders) Hemi chungchang hi awlsam takin han sawi ila.

A chang chuan nu leh pate hian nausen piang thara symptom thenkhat an hmuh hian an hlau hle thin. Naute chu a ei \ha lo va, a thau lo va, a nih loh leh rang takin thil danglam takin a awm a ni. Chutiang thil awm chhan chu ‘Inherited Metabolic Disorders’ a ni thei a, chu chu tumahin kan la hre lo. He hming i hriat hian hlau suh. Hei hi thupui buaithlak deuh mahse, a awlsam zawngin sawi ila.

A awlsam zawngin, he metabolism hi eng nge ni?

Kan taksa hi factory lian tak angin han ngaihtuah teh. Kan ei leh in ( carbohydrates , proteins , fats ) te hi he factory atana raw materials a ni. Heng raw materials hmanga taksa mamawh chakna siamtu, thil tul lote bawlhhlawh anga paih chhuak, thil thar siamna atana chemical process buaithlak tak hi metabolism kan tih hi a ni .

He factory-ah hian thil kal tluang taka kalpui turin ‘hnathawk’ an awm a. Heng hnathawkte hi enzyme kan ti a . Enzyme tin hian hna bik pakhat chauh an nei a. Pakhat chuan sugar a tichhia a, pakhat chuan protein a tichhia a, pakhat chuan toxins a paih chhuak bawk .

‘Inborn error of metabolism’ tih hian he factory-a ‘hnathawk’ (enzyme) zinga pakhatin hna a thawk tha lo tihna a ni a, hnathawktu chu a pianpui lo tihna a ni. Hei hi chu enzyme siamna atana mamawh genetic ‘blueprint’ a chhiatna vang a ni.

Eng thilin nge heng natnate hi a thlen?

Heng natna tam tak hi genetic factors avanga lo awm a ni . A awlsam zawngin sawi ila, naupangin chutiang natna a vei theih nan chuan gene chhia copy pahnih - pakhat chu an nu hnen atangin leh pakhat chu an pa hnen atangin an dawng tur a ni.

A tam zawkah chuan nu leh pa pahnih hi he gene chhia hi ‘carrier’ an ni . Chumi awmzia chu an taksaah hian gene chhia leh gene hrisel an nei vek tihna a ni. Gene hrisel tak avang hian symptom engmah an nei lo.

Mahse, naupangin nu leh pa pahnih a\angin gene chhia pakhat a rochun chuan naupang taksain a kaihhnawih enzyme chu a siam chhuak dawn lo. Chutah chuan natna a lo awm ta a ni. Hei hi tumah sualna a ni lo, rochun thil a ni.

Eng natna chi hrang hrang nge awm?

Hetiang natna chi hrang hrang za tam tak a awm a. Anmahni hian natna lan chhuahna danglam bik an nei vek a. A chi hrang hrang sawiho tam ber tlemte han thlir ila.

He natna lan chhuah dan engte nge ni?

Symptoms hi a inang lo hle. Eng enzyme nge tlakchham tih leh eng metabolic process nge tihbuai tih ah a innghat. Natna thenkhatah chuan an pian atanga kar tlemte chhungin symptoms a lang thin. Mi dangte chu an lo ṭhan chhoh theih nân kum tam tak a ngai thei a ni.

Heng a lan chhuah dan tlangpui thenkhat chu hetiang hi a ni:

• Lethargy leh mutthilh: Naupang chu a chau reng a, nunna a nei lo.
• Anorexia: Bawnghnute ei leh in duh lohna.
• Pum na leh luak chhuak: Luak fo thin.
• Rihna tlahniam emaw, taksa rihna tihpun loh emaw: Kum upa lam a zirin taksa rihna tihpun hi a inhmeh lo.
• Jaundice: Mit leh vun a sen vek thin.
• Hmasawnna tlai: Nuihzatthlak, lu chawi sang, leh kal ang chi hi naupang dang aiin a tlai zawk thin.
• Seizures: Seizure ang chi a awm thin.
• Zun, thawmhnaw, thawk atanga rim danglam tak.

Engtin nge natna hi hriatchhuah leh enkawl a nih?

Natna hriatchhuah dan

Ram changkang thenkhatah chuan nausen piang thar apiang chu chutiang natna engemaw zat screening an nei thin (Newborn Screening). Sri Lanka-a damdawi in ṭhenkhatah pawh hetiang natna eng emaw zat screening an nei bawk.

Doctor-in symptoms a lan hnua hei hi a rinhlelh chuan damlo chu special blood test leh DNA test turin an refer ang. Hengte chauh hi natna dik tak finfiah theihna tur a ni.

Enkawl dan tur

Heng natna thlentu genetic defect hi a pum puia tihdam theihna tur technology a la siam chhuak lo. Mahse, natna enkawl dan tur leh naupang nun pangngaia nunpui thei tur enkawlna tam tak a awm.

Enkawlna atana thil tum lian pathum a awm a, chungte chu:

• Taksain a ei theih loh ei tur khap: Entirnan, naupang PKU vei chu protein tamna ei tur khap thei eitur bik pek an ni.
• Enzyme Replacement Therapy: Natna thenkhat tan chuan taksa kalphung siamthat nan enzyme te hi vaccine angin pek thin a ni.
• Taksa atanga toxins paih chhuah: 1.1.Damdawi bik emaw, hmanraw bik emaw hmangin taksaa chemical tha lo awm khawmte chu paih chhuah a ni.

Hetiang natna nei naupang emaw puitling emaw tan chuan he lam hawia damdawi inah enkawlna zawng se a tha ber. Doctor thupek dik taka zawm a pawimawh hle.