I naute chu a chau reng em? Ei duhna tha lo a nei em? He MCAD Deficiency chungchang hi i zir dawn em ni?

I naupang tê chu a chau reng a, a muhil reng em? Khawsik a neih emaw, chaw ei loh emaw pawh nise a harsa hle em? Chutiang hunah chuan a luak chhuak em, a chakna a hloh em? Heng thil hnung lamah hian damdawi lam dinhmun kan sawi vak lo a awm mai thei, mahse hriat a pawimawh hle. Chu chu chutiang dinhmun pakhat MCAD tlakchhamna an tih chu a ni. Vawiin hian he thu hi awlsam takin, in hriatthiam theih angin kan sawi dawn a ni.

A awlsam zawngin, MCAD tlakchhamna hi eng nge ni?

Kan taksa hi motor angin han ngaihtuah teh. Car pakhat chu a tlan theih nan fuel a mamawh a ni. Chutiang bawkin kan taksa hian a hna thawk tur chuan chakna a mamawh a ni. He chakna hi kan ei leh in atang hian kan hmu thin. Kan chakna bulpui ber chu carbohydrates (starches) leh thau te hi a ni.

A tlangpuiin kan taksa hian chakna atan carbohydrates a hmang hmasa ber thin. Mahse darkar tam tak chaw ei lovin kan kal a, emaw, natna emaw, khawsik emaw, luak chhuak emaw avanga kan ei theih loh chuan kan taksa hian thau hi secondary energy source atan a hmang tan thin.

Kan taksaah hian enzyme bik a awm a, chu chuan he thau hi chakna ah a chantir thin. A hming chu Medium-chain acyl-coenzyme A dehydrogenase an ti a. He enzyme hian kan ei leh in leh kan taksaa awm medium-chain fatty acids te chu a tichhia a, chakna a siam thei a ni.

Naupang MCAD tlakchhamna neiah chuan taksain ka sawi tawh enzyme bik hi a siam chhuak tlem hle. Chumi awmzia chu a tlakchhamna a awm tihna a ni. Chuvangin thil thleng chu he naupang hi rei tak ei lovin a kal chuan a taksa chuan thau hmangin chakna a siam thei lo. Chumi avang chuan taksa chakna chu a tlahniam thut a, naupang chu dinhmun harsa takah a inhmu ta a ni.

Engtin nge he dinhmun hi a lo awm? Genetic a ni em?

Ni e, hei hi genetic condition a ni vek . Chu chu nu emaw, pa emaw atanga rochun a ni tihna a ni. Hei hi a chhan chu `ACADM` an tih gene-a mutation vang a ni.

Hei hi ‘autosomal recessive’ pattern-a rochun a ni. Chu chu eng nge a awmzia chu awlsam takin ka sawifiah ang.

Nu leh pa pahnih hian `ACADM` gene copy hrisel pakhat an nei a, copy dang pakhat chuan inthlak danglamna tlemte (mutation) a nei tih han ngaihtuah teh. Mahse copy hrisel pakhat an neih avangin nu leh pa pahnih hian symptom an nei lo. Anni hi ``carrier'' an ti a.

Hetiang carrier nu leh pa pahnih hian fa an neih chuan, .

• Naupangin he natna hi a neih theihna chance 25% a awm (an nu leh pa pahnih atanga mutated gene an rochun chuan).
• Naupang chu nu leh pa ang bawkin asymptomatic carrier a nih theihna chance 50% a awm.
• Naupang hian he mutated gene hi a rochun lo tak tak ang a, naupang hrisel tak a nih theihna chance 25% a awm.

MCAD tlakchhamna chhinchhiahnate chu engte nge ni?

Heng symptoms te hi nausen lai emaw, naupan lai emaw hian a lang tlangpui a, a bik takin naupang chu khawsik emaw, luak chhuak emaw avanga natna a awm a, ei tur a ei theih loh lai emaw, chaw ei inkar a inthlauhna a san chuan a lang tlangpui.

Heng symptoms te hi chi hnih ah then ila.

He natna hi Doctor ten engtin nge an hriat chian?

Hetah hian a tha ber chu tunlai hian naupang a pian hian , naute piang thar a piang thin.Nau piang thar screening hmang hian natna tam tak, MCAD tlakchhamna ang chi te chu a hmaa hriat theih a ni. He test hi naute pian hnu ni engemaw zat hnua a kephah atanga thisen tla tlemte hmanga tih a ni.

Chumi awmzia chu naupang chu he natna hi an lan chhuah hmain an hmuchhuak thei tihna a ni. Hei hi an nunna chhanhim thei tur thil a ni.

Nausen piang thar screening-ah hian he natna hi rinhlelhna a awm a nih chuan doctor chuan test dang neih belh turin thupek a pe ang.

• Genetic testing neih a ni
• Thisen leh zun test a ni

Natna a finfiah hnuah doctor chuan naupang chu a tul anga enkawlna leh thurawn a pe ang.

Hei hi eng enkawlna nge ni? Engtin nge naupang enkawl ang?

MCAD tlakchhamna enkawlnaah hian naupang ei leh in enkawl a ni ber . Hetah hian a pawimawh ber chu naupang chakna level vawn that hi a ni. Chu chu naupang chu chaw ei lovin hun rei tak a kal tur a ni lo tihna a ni .

Enkawlna leh enkawl laia ngaihtuah tur pawimawh thenkhat chu hetiang hi a ni.

• Chaw ei fo rawh: I fa chu darkar tam tak chhung riltam tir suh. Chaw ei tur ber bakah hian snacks pawh i pe tur a ni. Chaw ei lova rei tak kal chu a tha lo va, zanah pawh a tha lo. I fa chu a naupan lai chuan bawnghnute leh ei tur pe turin zanah i kaihthawh a ngai mai thei.
• Carbohydrates tamna ei tur: I fate eitur ah hian buhfai, chhang, alu, sweet potato, leh buhfai te ang chi starchy foods te dah tel bawk ang che. Chûngte chuan taksain a mamawh chakna chu awlsam takin a pe a ni.
• Thau tamna ei tur tihtlem: Hei hian thau tihtlem vek tihna a ni lo va, mahse thau tamna, chaw hmin ang chi thil tihkhawtlai hi a tha hle.
• Carnitine supplement: Naupang thenkhat chu an doctor chuan ``Carnitine'' tih supplement a pe thei bawk. Hei hian taksa chu thau chu chaknaah a chantir thei a ni.

I damloh chuan eng nge i tih thin?

Hei hi a pawimawh ber a ni. MCAD tlakchhamna nei naupangin khawsik, luak chhuak, ril\am ang chi natna a neih chuan a hlauhawm hle. A chhan chu chutih hunah chuan naupang chuan chaw a ei lo vang a, taksa chakna pawh a tlahniam thuai dawn a ni.

A chang chuan naupang chu zai a ngai a nih chuan an tih hmain chaw nghei a ngai dawn a ni. Chutiang hunah chuan doctor chuan naupang chu damdawi inah a dah ang a, tui a tlakchham theih nan glucose saline (IV fluids) a pe ang.

Engtikah nge Doctor ka hmuh ang? Engtikah nge ETU ah hian ka kal ang?

I fain MCAD tlakchhamna a nei tih hmuhchhuah a nih chuan a hnuaia thil awm danah hian doctor pan nghal rawh:

• Naupangin chaw a ei pangngai lo emaw, chaw ei a skip emaw a nih chuan.
• Naupang chu khawsik a neih chuan, a muhil lutuk chhunzawm zel a, a rilru a hah hmel hle a nih chuan.
• Naupangin a luak chhunzawm zel chuan.

Engtikah nge Emergency Treatment Unit (ETU) pan nghal tur:

• I fain seizure a neih chuan a hnai ber hospital emergency room (ETU)-ah engmah sawi belh ngai lovin hruai rawh. He natna avanga harsatna lian ber pakhat chu seizure hi a ni.

He natna vei naupang hi nun pangngaiin a nung thei ang em?

A ni tak zet! Chu chu hetah hian thil pawimawh leh lungawithlak ber a ni. He natna hi an pian tirh atanga Newborn Screening hmanga hriat hmasak a nih a, doctor-in a tih ang chiaha ei leh in enkawl a nih chuan naupang tam zawk chu harsatna awm lovin hrisel tak, nun pangngai takin an hmang thei a ni.

Amaherawhchu, he natna hi hriatchhuah a nih loh chuan, chu chu a lan chhuah huna enkawl a nih loh chuan naupang 20%-25% inkar hian hun rei tak chhung chak lohna emaw, thihna thlengin an nei thei a ni. Chuvang chuan nau piang thar endik leh natna hriat hmasak hi a pawimawh em em a ni.