I thisenah ammonia a tam lutuk em? Hyperammonemia dinhmun hlauhawm tak hi i zir dawn teh ang!

Kan taksa chhungah hian thil tam tak a thleng a ni lawm ni? A châng chuan heng thil kalphungte hi a out of whack deuh a nih chuan harsatna lian tak tak a lo chhuak thei ṭhin. Entirnan, hyperammonemia hi natna khirh tak a ni a, kan thisenah bawlhhlawh bawlhhlawh ammonia an tih a pun chuan a lo awm thin. Hei hi hriat chian a pawimawh hle a, a chhan chu uluk taka enkawl loh chuan i nunah nghawng lian tak a nei thei a ni.

Hyperammonemia tih hi eng nge ni?

A awlsam zawngin sawi ila, hyperammonemia chu i thisena ammonia level pangngai lo taka a san chuan a ni. Ammonia, a nih loh leh NH3 hi kan chaw ei protein kan ei hian kan intestines-a bawlhhlawh lo chhuak a ni. A tlangpuiin he ammonia hi kan liver-ah a kal a, chutah chuan process a ni. Hetiang kalphung hi urea cycle kan ti a . He cycle hmang hian ammonia hi thil hlauhawm lo zawk urea an tih ah a inthlak a, zun ah a chhuak thin. Mahse, he urea cycle-ah hian thil a dik lo a nih chuan, emaw, liver-in he ammonia hi a process tha thei lo a nih chuan, ammonia hi thisenah a awm tan thin. Hetianga thisena ammonia pung hi kan Central Nervous System (CNS) , thluak leh ruhro (spinal cord) tan chuan a toxic hle a ni. Chuvangin hyperammonemia hi damdawi lam pan vat ngai natna a ni a, nunna atana hlauhawm pawh a ni thei .

Hei hi tuin nge ti hmasawn thei ber ang?

He natna hi hyperammonemia an tih hian nau piang thar, naupang tê leh puitlingte a nghawng thei a ni.

• Puitling zingah chuan he natna vei zinga 90% vel chu cirrhosis of the liver vei an ni .
• Nausen piang tharte hian hetiang hi an nei thei a, a chhan chu urea cycle (congenital urea cycle disorder) neia piang an nih vang a ni. Hengte hi genetic condition a ni.
• Tin, liver failure na tak leh inherited metabolic diseases te hian naupang te te ah hyperammonemia a thlen thei bawk.

Hei hi engtiang chiahin nge a awm tih chiang taka sawi a harsa a, thil chi hrang hrang avanga lo awm thei a nih avangin. Mahse zirchiangtute chuan a chhan pakhat, urea cycle disorder hian United States-a naute 250,000 zinga pakhat leh international level-a naute 440,000 zinga pakhat a nghawng niin an chhut.

Hyperammonemia hi engte nge ni?

Hei hi chhan hrang hrang a awm thei. Heng chhante hi kum upat dan azirin a danglam thei a ni. Mahse a tlangpuiin a chhan ber pahnih chu liver problem leh urea cycle disorders (UCDs) te hi a ni.

Liver lama harsatna a neih vang a ni

Kan thin (liver) hi ammonia chu urea-a chantirtu ber a ni. Chuvangin liver a chhiat emaw, a natna emaw a nih chuan ammonia a process tha thei lo. Hei hi thisenah ammonia a lo punkhawm hun a ni. Liver nena inzawm, hyperammonemia thlen thei thenkhat chu hetiang hi a ni:

• Liver natna : Liver a chhiat chuan , ammonia a process theihna a tlem hle. Hei hi liver natna khirh takah a tam zawk a, mahse liver natna nghet tak neiah pawh ammonia level hi a sang chho nghal thei a, entirnan, pum emaw, intestines emaw-ah thil a thleng (gastrointestinal bleeding ) emaw, electrolyte imbalance a awm chuan emaw. Hei hi puitling leh naupangte ammonia level sang chhan ber a ni.
• Hepatic encephalopathy : Hei hi liver a chhiat a, ammonia a process tha thei lo a nih chuan a thleng thin. Ammonia hi thisenah a pungkhawm a, thluak lamah a kal a. Hei hian buaina, ngaihtuahna buai , leh coma thlengin a thlen thei a ni. A chang chuan thihna thlen thei a ni.
• Cirrhosis of the liver: Cirrhosis chu thin tissue hrisel tak takte chu scar tissue hmanga thlak a ni. Hei hian liver a thawk tha lo thei a, hyperammonemia a thlen thei bawk. Cirrhosis hi thin natna rei tak a ni.
• Acute liver failure: Hei hi liver hnathawh a chawlhsan thut lai a ni. Natna leh dinhmun hrang hrang avanga lo awm thei a ni. Entirnan, damdawi thenkhat, acetaminophen -te avanga damdawi avanga thin hliam hi United States-a acute liver failure awm zawng zawng zinga 50% a ni. Naupang hyperammonemia vei zinga 64% a ni.
• I liver-a thisen kal tlem: I liver-ah thisen a kal tha lo a nih chuan taksain ammonia chu process turin liver-ah a thawn thei lo. Chuti chung pawh chuan thisenah ammonia a pung khawm thin.
• Reye-a natna (syndrome) chu:Hei hi thil awm lo tak a ni. Thisen, thluak leh thin (liver) te a nghawng a ni. A tlangpuiin thisenah ammonia level a tisang a, thisen glucose level a ti hniam bawk. Naupang tê leh tleirawl, chickenpox emaw flu/influenza ang chi virus infection aṭanga dam leh tawh, chutiang symptoms neia aspirin ei tawhte a nghawng tam ber. Reye’s syndrome hi a chhan dik tak hriat a la ni lo. Mahse, he hlauhawmna avang hian doctor-in a bik taka a rawt loh chuan naupang tê tê leh tleirawlte chu aspirin pek loh tur a ni.

Urea Cycle Disorders (UCDs) avanga harsatna awm thei te .

Kan sawi tawh ang khan urea cycle hi toxic ammonia chu urea-ah a chantir a, zun atanga a chhuah dan a ni. He cycle hian step engemaw zat a nei a, chung zingah chuan enzyme chi hrang hrang a mamawh a ni. Heng enzyme te hi:

• N-acetyl-glutamate synthase (NAGS) hmanga siam chhuah a ni.
• Carbamoyl phosphate synthetase (CPS) hmanga siam chhuah a ni.
• Ornithine transcarbamylase (OTC) hmanga tihdam theih a ni.
• Argininosuccinate synthetase (AS) hmanga siam chhuah a ni.
• Argininosuccinic acid lyase (ASL) hmanga siam a ni.
• Arginase (ARG1) a ni.

Heng enzyme zinga pakhat a tlakchham chuan urea cycle a thawk tha lo. Thisenah hian Ammonia a pung khawm a. Hetiang enzyme tlakchhamna hi urea cycle disorder (UCD) an ti a. UCD hian hyperammonemia a thlen thei a, chu chu acute emaw chronic emaw a ni thei. UCD hi pianpui natna a ni. Nau piang thar, urea cycle enzyme tlakchham vek tawhte chu an pian atanga darkar 24 atanga darkar 72 chhungin acute hyperammonemia an nei tlangpui. Enzyme tlakchhamna hi a na lo emaw, a tlem emaw pawh ni se, ammonia buildup hi dam chhung engtik lai pawhin, natna, lungkhamna emaw, thil dang lungchhiatthlak tak takah emaw a awm thei a ni. Heng UCD te hian naupang damlo na tak tak te zingah acute hyperammonemia vei zinga 23% an nei a ni.

Chhan dang

Hei bakah hian chhan dang engemaw zat a awm thei bawk:

• Kidney (renal) failure: Kidney failure avanga kal (kidney) in urea tha taka a chhuah theih loh chuan thisenah ammonia a khawlkhawm thei a ni.
• Thisen lama harsatna thenkhat: Hyperammonemia hi thisen lama harsatna multiple myeloma leh acute leukemia te vang pawh a ni thei.
• Infection thenkhat: urease siamtu thil nung Proteus mirabilis , Escherichia coli (E. coli) leh Klebsiella teBacterial infection, streptococci ang chi, a bik takin naupang pianpui urinary tract defect nei leh puitling kum upa zawk, urinary tract infection (UTIs) avanga urinary retention nei te chuan hyperammonemia na tak a thlen thei a ni.

Hyperammonemia natna lan chhuah dan chu engte nge ni?

A natna lan chhuah dan chu a natna a nasat loh leh a nasat dan azirin a inang lo thei hle a, chubakah a lo awm kum a zirin a inang lo thei bawk.

Naupang leh puitling tan chuan symptom na lo tak tak a awm thin

• Nausea leh luak chhuak
• Pum natna
• Thinrim fo thin
• Lu na (lu na) .
• Balance, coordination, leh thusawi (ataxia) lama harsatna (ataxia) .
• Nungchang a inthlak danglam thin

Naupang chauh nghawng thei symptoms na lo dang

• Hlawhtlin lohna
• Muscle chak lohna (hypotonia) .
• Neurodevelopment lama tihkhawtlai a awm

Naupang leh puitlingah natna lanchhuahna na tak a awm

Hengte hi symptom hlauhawm tak tak a ni. Chung zinga pakhat tal i neih chuan damdawi lam thurawn i la nghal tur a ni.

• Buaina leh ngaihtuahna buai (disorientation) a awm
• Mood a inthlak danglam thin
• Mutthilh lutuk
• Hriatna lama inthlak danglamna
• Seizures a awm thin
• Thâwk chak tak (Hyperventilation) .
• Coma ah a awm

Warning: Nangmah emaw, i hnaih ber emaw hian heng symptoms te hi i neih chuan 911 ah call nghal la, a nih loh leh i hnai ber damdawi in emergency department ah kal rawh. Thisena ammonia level sang hi nunna atana hlauhawm a ni a, damdawi lam pan vat a ngai!

Nausen piang tharte natna lan chhuah dan

Nausen piang thar chu hyperammonemia in a nghawng a nih chuan a pian atanga darkar 24 atanga darkar 72 chhungin a hnuaia symptoms te hi a lang tlangpui thin:

• Thinrim fo thin, tap fo thin
• Luak chhuak
• Lethargy a ni
• Seizures a awm thin
• Thâwk chhuah laiin grunting
• Thâwk chak tak (Hyperventilation) .

Pawimawh: I naute hian heng symptoms te hi a lan chhuah chuan damdawi inah i la awm a nih chuan doctor ko nghal rawh. In lama i awm chuan 911 call nghal la, a nih loh leh damdawi in hnai ber panpui rawh. Hei hi tihkhawtlai tur thil a ni lo.

Engtin nge doctor-te hian hei hi an hriat chian?

Doctor-te chuan thisenah ammonia level test-in hyperammonemia an ringhlel tlangpui.

• Nausen thla khat thleng tan chuan thisenah ammonia level 80 micromol/liter (80 micromol/L) aia tam a nih chuan.
• Naupang kum upa zawk tan chuan 55 micromol/liter (55 micromol/L) aia tam a nih chuan.
• Puitlingah chuan 30 micromol/liter (30 micromol/L) aia tam a nih chuan.

He unit of measurement (micromol/L) hi thisen a ammonia awm zat tehna a ni.

Hei hi hriat theih nan eng test nge tih thin?

Test bulpui ber chu thisen test a ni a, i thisena ammonia awm zat tehna a ni. I ammonia level a san chuan i doctor chuan a chhan zawng turin test dang a ti thei bawk. Entirnan, i liver function leh kidney function enfiah nan thisen test , chubakah urinalysis . Hyperammonemia hian central nervous system a tichhe thei a, nunna atana hlauhawm a nih avangin i doctor chuan thluak nghawng thei harsatna awm leh awm loh enfiah nan imaging test, CT (computed tomography) scan emaw MRI (magnetic resonance imaging) scan emaw pawh a ti thei bawk.

Hyperammonemia hi eng enkawlna nge ni?

Enkawlna chu a chhanah a innghat. Entirnan, puitlingah chuan thin natna emaw, hepatic encephalopathy emaw vang a ni a, nausen piang tharah chuan urea cycle disorder (UCD) vang a ni. Acute hyperammonemia-ah chuan a tum ber chu thisena ammonia level tihhniam leh harsatna bik, cerebral edema leh thluak chhehvela pressure sang (intracranial hypertension) te control a ni.

• Nausen piang tharin hyperammonemia a neih chuan doctor-te chuan protein pek an chawlhsan ang (a chhan chu protein an ei hian ammonia a lo chhuak thin) a, chu ai chuan glucose, sugar solution chu calorie pe turin an pe zawk ang. Hemodialysis tih hming pu procedure an hmang bawk ang . Hei hian naute thisen tihfai a, dialysis machine leh special filter (artificial kidney ang chi) hmanga ammonia lakchhuah a huam a ni.
• Partial urea cycle enzyme deficiency (UCD) vei, stress vanga hyperammonemia vei, stress-induced hyperammonemia te pawh hi protein withdrawal leh glucose chu calorie atan pek an ni bawk. Hemodialysis hi an enkawl tirh atanga darkar tlemte chhunga an ammonia level a tlahniam loh chuan tih chauh a ni.
• Hepatic encephalopathy enkawlna chu intestine-a ammonia siam chhuah tihtlem a ni. First-line treatment chu lactulose leh lactitol awmna damdawi ei a ni. Heng sugar te hian intestine-a ammonia siam leh lakluh a ti tlem a ni.

Doctor-te chuan urea cycle disorder nei te tan an natna lan chhuah tam lutuk tihtlem nan heng ang dietary supplement te hi an rawt thei ang:

• L-carnitine a ni
• L-ornithine-L-aspartate a ni
• Arginine a ni

Hetiang dinhmun hi pumpelh theih dan tur a awm em?

Hyperammonemia thlentu tam tak a awm avangin natna zawng zawng hi ven theih a ni lo. Mahse, thin natna chi hrang hrang, a bik takin i ei leh in leh nunphung nena inzawm te ven nan hma i la thei a ni. Liver natna vei theihna i neih chuan i doctor chuan heng nunphung tihdanglamna hi a rawt thei ang:

• Zu in loh emaw tihtlem emaw pawh a pawi lo.
• Trans fats emaw high-fructose corn syrup emaw awmna ei leh in loh tur.
• Liver tihchhiat loh nan prescription leh over-the-counter damdawi hman hunah fimkhur hle ang che.
• Exercise neih fo thin .
• Sa sen ei tlem.

Naupang leh puitling naupangte hyperammonemia thlentu Reye’s syndrome ven nan naupangte chu virus infection (flu emaw chickenpox ang chi) symptoms nei tan doctor-in a bik taka a rawt loh chuan aspirin pek loh tur a ni. Urea cycle defect (UCD) hi a tlem hle a, mahse a thlentu gene i neih leh neih loh enfiah nan genetic test a awm a. Hemi chungchang hi i doctor nen inbia ang che.

Hetiang dinhmun hi eng prognosis nge ni?

Hyperammonemia, chu chu dam leh theihna tur thlirna chu thil engemaw zatah a innghat a ni:

• I ammonia level a san zia.
• Ammonia level hi eng chen nge a tihsan tawh.
• Eng thilin nge hyperammonemia hi a thlen?

A tlangpuiin hyperammonemia awm theihna tur thlirna a tha lo hle. Enkawl loh emaw, enkawl tlai emaw a nih chuan thluak hring (irreversible brain swelling) hi thihna rate sang tak nen a inzawm a ni. Vanduaithlak takin nau piang thar chu eng ang pawhin rang emaw, nasa takin emaw hyperammonemia na tak neia enkawl ni mah se, a rah chhuah chu a tha ang tih rinhlelhna a awm lo. United States-ah chuan urea cycle defects (UCDs) nei, naupan lai atanga hyperammonemia vei te kum 11 chhunga dam rei zat chu 35% vel a ni. Naupan laia hyperammonemia vei tan chuan damchhuah zat hi 87% vel a ni. Hyperammonemia vanga hepatic encephalopathy na tak nei damlo kum khat leh kum thum chhunga dam rei zat chu 42% leh 23% a ni tih an sawi.

Hyperammonemia avanga harsatna awm thei te chu engte nge ni?

He natna hi enkawl vat a nih loh chuan ammonia level sang hian central nervous system a tichhe thei a, nunna atana hlauhawm harsatna a thlen thei bawk. Chutiang harsatnate chu:

• Cerebral edema a awm thin
• Thluak chhehvela pressure sang (Intracranial hypertension) .
• Brain herniation – Hei hi thluak a hring leh thluak vel pressure sang vang a ni tlangpui.
• Coma ah a awm
• Thihna

Miin hun rei tak chhung chronic mild hyperammonemia a neih chuan rilru lama harsatna leh nungchang leh rilru lama harsatna awm reng a nei thei a ni.

Engtikah nge Doctor kan hmuh ang?

Nangmah emaw, i ngaihsak tu emaw hian hyperammonemia symptoms a neih chuan 911 call nghal la, damdawi in hnai ber pan rawh. Hei hi tihkhawtlai tur thil a ni lo. Liver natna emaw, partial urea cycle enzyme tlakchhamna emaw i neih chuan i dinhmun enkawl dan tur leh i ammonia level enfiah nan doctor pan fo a pawimawh hle.

Hyperammonemia hi natna khirh tak a ni a, thil engemaw zat avanga lo awm thei a ni. Nang emaw, i fa emaw, i naute emaw hian heng symptoms te hi i neih chuan tanpuina zawng nghal rawh. Liver natna i neih chuan, emaw, i chhungte zinga mi tu emaw chuan urea cycle disorders (UCDs) a neih chuan, i doctor nen hyperammonemia i vei theihna tur chungchang sawipui rawh. I tanpui turin an awm reng a ni.

A tawp berah chuan hei hi hre reng ang che.

Okay, chuvangin kan sawi tawh atanga i hriat reng tur pawimawh tak tak te chu hetiang hi a ni:

• Hyperammonemia hi thisenah ammonia tamna hlauhawm tak a ni. Hei hian kan thluak leh kan nervous system a tichhe nasa hle.
• Hei hi chhan hrang hrang a awm thei. Liver problem leh urea cycle disorder (UCD) te hi a chhan ber a ni.
• A natna hi a nasat dan leh kum a zirin symptoms a inang lo. Anni hi natna chi hrang hrang, rilru hahna, luak chhuak, leh lu na atanga natna khirh zawk, rilru hahna, rilru hahna, leh coma thlengin a awm thei. Nau piang tharte pawhin an natna lan chhuah dan hi an ngaihtuah bik tur a ni.
• Natna lanchhuahna na tak i neih chuan tihkhawtlai lohvin damdawi lam thurawn i la tur a ni. Hei hi nunna emaw thihna emaw dinhmun a ni thei.
• Enkawlna chu a chhanah a innghat. Enkawl vat chuan ammonia level a tihhniam thei a, harsatna awmte pawh a control thei bawk.
• A chhan ṭhenkhat chu ven theih a nih loh laiin, nun hrisel neih leh i liver enkawl hian hlauhawm ṭhenkhat chu tihziaawm theih a ni .
• Liver natna i nei emaw, i chhungte zingah UCD nei emaw pawh nise, medical checkup neih fo a pawimawh.

Hriselna hi i hre chiang ber tih theihnghilh suh. Thil danglam leh danglam bik i hriat chuan Doctor biak pawh hlau suh. Hyperammonemia, ammonia, thin, urea cycle, thluak, natna lan chhuah dan, enkawl dan