I naute hian maple syrup rim a nam em? He natna hlauhawm tak (Maple Syrup Urine Disease) chungchang hi i zir chiang ang u

I nau piang thar taksa emaw, zun emaw chu mak tak maiin a rimtui em, maple syrup ang maiin? Thil pangngaiah i ngai mai thei. Mahse, ngaihthah ngai lo tur leh damdawi lam pan vat ngai dinhmun khirh tak chhinchhiahna a ni thei. Hetiang dinhmun hi maple syrup urine disease an ti a, a tawi zawngin MSUD an ti bawk. Vawiin hian awlsam leh hriatthiam awlsam takin kan sawi dawn a ni.

Maple syrup zun natna (MSUD) hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Maple Syrup Urine Disease (MSUD) hi pian tirh atanga awm, dam chhung daih, enkawl that loh chuan nunna atana hlauhawm thei a ni. Metabolic disorder a ni. Metabolic disorder hi i tan chuan thil buaithlak tak angin a lang thei. Mahse a awlsam khawp mai. Kan taksain kan ei tur chu chaknaah a chantir danah harsatna a awm tihna a ni.

MSUD-ah hian kan taksa hian protein siamtu amino acid thenkhat chu uluk takin a ti chhe thei lo va, energy-ah a chantir thei lo. He harsatna hi a bik takin amino acid pathum-ah a awm a:

• Leucine a ni
• Isoleucine hmanga siam a ni
• Valine a ni

MSUD vei piangteah chuan heng amino acid pathumte hi taksaah a chhe tha tawk lo a, chuvangin taksaah toxic level-ah an pungkhawm a ni. He toxic state hi natna lan chhuahna ber a ni a, chu chu maple syrup emaw, zun , beng hnim, leh thawmhnaw-a maple syrup emaw, sugar kang emaw rim a ni.

MSUD chi hrang hrangte chu engte nge ni?

MSUD hi chi liah then theih a ni. A chi zawng zawng hi a inang vek lo. Ṭhenkhat chu a na hle a, ṭhenkhat erawh chu a na lo deuh bawk.

He natna hi a hluar em?

No. MSUD hi natna hmuh tur awm lo tak a ni . Khawvel pumah nausen piang 185,000 zinga pakhat vel chauh a nghawng a ni.

Amaherawhchu, he natna hi hnam thenkhatah a hluar zawk a ni. Hei hi chhungkua emaw, thlah khat emaw atanga lo piang, chu chu chhungte hnai tak nei te zingah a hluar hle. Hei hi a chhan chu he natna thlentu gene hi chutiang khawtlang zingah chuan a hluar zawk vang a ni.

MSUD natna lan chhuah dan chu engte nge ni? Engtin nge emergency kan hriat theih ang?

A natna lan chhuah dan hriat a pawimawh hle a, a chhan chu enkawl tan thuai turin a pui a ni.

Nausen piang thar nei nu pakhatin a naute diaper a thlak emaw, a kuah lai emawa rim mak tak, thlum tak a hmu tih han mitthla teh. A tirah chuan i ngaihven lo mai thei. Mahse ni hnih emaw ni thum emaw hnuah chuan naute chu bawnghnute pawh a in thei lo va, a tap reng a, a chau hle niin a lang. Hei hi hei hi thil pangngai a ni lo tih ngaihtuah vat a ngaih hun a ni.

Enkawl loh chuan he natna hi metabolic crisis-ah a kal thei a, emergency hlauhawm tak a ni.

Naupang leh puitling MSUD vei nia hriatte pawh hian he metabolic crisis chi hi infection, accident, emaw stress na tak ang chi thil vang a ni thei. Chuvangin hei hi hriat reng a pawimawh.

Engvangin nge he natna hi a lo awm?

MSUD hi genetic mutation , nu leh pa atanga fate rochun atanga lo awm a ni.

A awlsam zawngin, kan taksa hian a hmaa kan sawi tawh amino acids te tihchhiat nan enzyme chi khat bik a mamawh a, chungte chu: leucine, isoleucine leh valine te an ni. Kan genes te hian heng enzyme te hi siam turin min hrilh a.

MSUD vei chuan heng gene-ah hian mutation, a nih loh leh defect a nei a, chu chuan thupek a pe a ni. Hei hian a chhan chu:

• A kaihhnawih enzyme hi taksaah siam chhuah a ni lo thei .
• A nih loh leh, enzyme tling lo siam chhuah a ni thei bawk .
• A châng chuan enzyme siam ni mah se, a thawk ṭha lo thei .

A chhan chu eng pawh ni se, a tawpah chuan thil thleng chu chu amino acid pathumte chu taksaah an pung khawm a, toxic level an thleng ta a ni.

Engtin nge he natna hi rochun a nih?

Hei hi autosomal recessive pattern atanga inherit a ni . Hei hi thumal buaithlak tak angin a ri a ni lawm ni? A awlsam zawngin i vawng ang u.

Naupangin he natna a vei theih nan chuan nu leh pa pahnih hi gene chhia kengtu an nih a ngai a ni. Carrier tih awmzia chu chu mi chuan an taksaah gene copy tha tak leh copy dik lo a nei vek tihna a ni. Carrier te hian he natna hi an nei lo. Hei hi a chhan chu gene copy tha tak hian enzyme mamawh a siam vang a ni.

Mahse, nu leh pa pahnih hi carrier an nih chuan naupang chuan nu leh pa aṭangin gene chhia chu a rochun thei a ni. Gene chhia pahnih hi rochun a nih chauhvin naupang hian MSUD a nei ang.

He natna hian eng harsatna nge a thlen theih?

Taksaa toxins awm khawm hian kan taksa peng hrang hrang (organ system) engemaw zat a tichhe thei a ni. Enkawl loh emaw, enkawl dik loh emaw a nih chuan a hnuaia harsatnate hi a awm thei a ni:

• Brain damage , nervous system lama harsatna, leh hmasawnna tlai te.
• Rilru lam hriselna lama harsatna, attention deficit hyperactivity disorder (ADHD), lungkhamna, leh lungngaihna te vei theihna a sang.
• Bone mass tlahniam ( osteoporosis ), chu chuan ruh a tikehsawm awlsam hle.
• Pancreas ( pancreatitis ) a inflammation, a bik takin metabolic crisis a awm chuan.
• Luruh a pressure sang lutuk avanga lu natna rei tak a awm.
• Movement disorder te, khur leh taksa ruh inzawmna (muscle contraction) thunun theih loh te.
• Coma leh thihna thlengin natna hrik kai vang te, stress vang te, ei leh in tha lo vang te pawh a awm thei.

Engtin nge natna hi kan hriat theih ang? (Diagnosis) tih a ni.

Classic MSUD hi nau piang thar screening neih laiin hmuhchhuah a ni tlangpui a, chu chu thisen test a ni.

Tin, naupai laiin test pawh naute hian natna a vei em tih hriat theih a ni bawk. Hei hi nausen (placenta) sample tlemte lak ( chorionic villus sampling ) emaw, naute chhehvela amniotic fluid test ( amniocentesis ) emaw hmanga tih theih a ni.

Naupang MSUD chi dang nei te hian naupan laiah symptom an nei lo thei. Kum engemaw zat hnuah chauh symptoms a lang lo thei. Chutih hunah chuan doctor chuan thisen test leh genetic test hmangin natna hi a nemnghet ang . Tin, naupang taksa atanga rimtui bik lo chhuak hi natna hriat theihna tur clue lian tak a ni bawk.

MSUD enkawl dan tur chu engte nge ni?

MSUD hi damdawi awm lo mah se, uluk taka enkawl theih a ni a, nun pangngai a awm thei bawk. Enkawlna hian thil tum lian tak pahnih a nei a, chungte chu:

1. Taksa chhunga chu amino acid pathum awm zat control.

2. Metabolic crisis a awm chuan emergency treatment pek.

1. Ei leh in tur

Hei hi MSUD enkawlna atana pawimawh ber a ni. Damlo chuan a dam chhung zawngin ei leh in khauh tak a zawm a ngai a ni. Chu chu protein tamna ei tur tihtlem tihna a ni. A chhan chu chu harsatna nei amino acid pathum chu protein-ah a awm a ni.

Nausen piang thar chu bawnghnute powder chi khat bik pek a ni a, chu chuan heng amino acid pathumte hi a pai lo va, mahse eitur dang zawng zawng a pai vek a ni.

Damlo tinte tana remchang tur ei leh in tur ruahmanna him leh hrisel siam turin nutritionist nen thawhhona tha tak neih a pawimawh hle.

2. En reng reng

MSUD vei damlo chu a dam chhung zawng damdawi lam enkawlna hnuaiah a awm tur a ni. Thisen leh zun test hi taksaa amino acid awm zat endik fo thin a ni. A result a zirin diet pawh siamrem a ni.

3. Metabolic crise avanga emergency hmanga enkawl

Metabolic crisis symptoms i neih chuan damdawi inah dah nghal tur a ni. Damdawi inah chuan medical team chuan a hnuaia enkawlna te hi an pe thei ang:

• Amino acid level hi intravenous (IV) glucose leh insulin pek hmangin control a ni.
• Nutrient tul tak tak, mahse hlauhawm lo tak takte chu nasogastric tube emaw IV emaw hmangin taksaah pek a ni.
• Hemodialysis hi thisen atanga thil tha lo (toxic substances) paih chhuah nan an ti thin.
• Brain swelling ang chi complication te chu enfiah fo a, a tul anga enkawlna pek thin a ni.

He natna hi liver transplant hmanga tihdam theih a ni em?

Awle. Hei hi MSUD vei tan beiseina tha ber a ni.Classic MSUD hi liver transplant hmangin hlawhtling takin tihdam theih a ni.

A chhan chu harsatna nei amino acids tichhe thei enzyme hi liver atanga siam a nih ber vang a ni. Chuvangin thin hrisel tak an thlak chuan chu thin chuan enzyme mamawh chu a siam chhuak thin. Chumi hnuah chuan damlo chu ei leh in lama tihkhawtlai leh symptoms awm lovin nun pangngaiin a nung thei a ni.

Mahse, liver transplant hi operation lian tak a ni. Risk a nei a ni. Tin, taksain thin thar a hnawl loh nan dam chhung immunosuppressants a mamawh bawk. Mahse, he method hian mi tam takin MSUD nena nun ai chuan result tha zawk a thlen a ni.

He natna laka inven dan tur a awm em?

MSUD hi genetic disease a nih avangin a pumpelh kim thei lo. Amaherawhchu, naupangin he natna a rochun theihna hi a tihziaawm thei a ni.

I chhungkuaa mi tu emaw chuan MSUD a vei a nih chuan naute i neih hmain i doctor nen inbiakna neih hmasak a pawimawh. Nang leh i kawppui hian carrier in nih leh nih loh hriat nan genetic test in nei thei ang. In pahnih hian carrier in nih chuan genetic counselor nen in fate hnena natna kai theih dan tur leh a laka invenna atana hmalak theih dan tur te in sawipui thei ang.