Yu gɛt tumɔs amonia na yu blɔd? Lɛ wi lan bɔt di denja kɔndishɔn we pɔsin kin gɛt we i gɛt haypa amɔnimia!

Bɔku tin dɛn de apin insay wi bɔdi, nɔto so? Sɔntɛnde, we dɛn tin ya kin kɔmɔt na do smɔl, big prɔblɛm kin kam. Fɔ ɛgzampul, haypa amonia na siriɔs sik we kin apin we wan dɔti we dɛn kɔl amonia bɔku na wi blɔd. I rili impɔtant fɔ no dis bikɔs i kin gɛt big impak pan yu layf if yu nɔ tek kia ɔf yu fayn.

Wetin na Hyperammonemia?

Fɔ tɔk am simpul wan, haypaammonemia na we yu blɔd amonia lɛvɛl nɔ de bɔku. Amonia ɔ NH3 na dɔti tin we kin kɔmɔt na wi insay we wi de dayjɛst di prɔtin dɛn we wi de it. Nɔmal wan, dis amonia kin go na wi liva ɛn dɛn kin prosɛs am de. Wi kin kɔl dis prɔses di yuria saykl . tru dis saykl, di amonia de kכnvכlt to wan tin we nכ de du bכku we dεn kכl yuria εn i de kכmכt na di urine. Bɔt if sɔntin nɔ apin to dis yuria saykl, ɔ if di liva nɔ ebul fɔ prosɛs dis amonia fayn fayn wan, amonia kin bigin fɔ gɛda na di blɔd. Dis inkris we di amonia de go ɔp na di blɔd de rili pɔyzin to wi Sɛntral Nɛvɔs Sistɛm (CNS) , we na di bren ɛn spɛshal kɔd. Na dat mek haypaammonemia na sik we nid fɔ go to dɔktɔ wantɛm wantɛm ɛn i kin ivin mek pɔsin in layf de pan denja .

Udat go ebul fɔ divɛlɔp dis pas ɔlman?

Dis sik we dɛn kɔl hyperammonemia kin afɛkt pikin dɛn we dɛn jɔs bɔn, yɔŋ pikin dɛn, ɛn big pipul dɛn.

• Na big pipul dɛm, lɛk 90% pan di wan dɛm wae gɛt dis sik na di wan dɛm wae gɛt sirosis na di liva .
• di nyu bכbi pikin dεm kin gεt dis biכs dεn bכn dεm wit difεkt na di yuria saykl (congenital urea cycle disorder) . Dis na tin dɛn we kin apin to pɔsin we gɛt jɛnɛtiks.
• Dɔn bak, we di liva nɔ de wok fayn ɛn di sik dɛn we dɛn kin gɛt frɔm di bɔdi we dɛn kin gɛt kin mek yɔŋ pikin dɛn gɛt haypaammonemia.

E tranga fɔ tɔk bɔt aw dis kin apin, bikɔs difrɛn tin kin kam wit am. Bɔt sɔm pipul dɛn we de stɔdi bɔt dis tɔk se di sik we dɛn kɔl urea cycle disorder, we na wan pan di tin dɛn we kin mek dɛn gɛt dis sik, kin afɛkt wan pan ɛvri 250,000 pikin dɛn we dɛn bɔn na Amɛrika ɛn wan pan ɛvri 440,000 pikin dɛn we dɛn bɔn na ɔda kɔntri dɛn.

Wetin na di tin dɛn we kin mek pɔsin gɛt haypa amɔnimia?

Bɔku rizin dɛn kin de fɔ dis. Dɛn rizin ya kin chenj we pɔsin de ol. Bɔt in jɛnɛral, tu pan di men tin dɛn we kin mek pɔsin gɛt prɔblɛm na di liva ɛn yuria saykl dizayd (UCD) .

Bikɔs ɔf prɔblɛm dɛn na di liva

Wi liva na di men ɔgan we de chenj amonia to yuria. So if di liva dɔn pwɛl ɔ i sik, i nɔ go ebul fɔ prosɛs amonia fayn fayn wan. Dis na we amonia kin gɛda na di blɔd. Na sɔm tin dɛn we gɛt fɔ du wit di liva we kin mek pɔsin gɛt haypa amɔnimia:

• Liva sik : We di liva dɔn pwɛl , i nɔ kin ebul fɔ prosɛs amonia. Dis kin apin mɔ pan pipul dɛn we gɛt siriɔs liva sik, bɔt ivin pan pipul dɛn we gɛt stebul liva sik, sɔntɛnde di amonia lɛvɛl kin go ɔp wantɛm wantɛm, fɔ ɛgzampul, if sɔntin apin na di bɛlɛ ɔ insay di bɛlɛ (gay blɔd ) ɔ if ilɛktrɔlayt nɔ balans . Dis na di men tin we kin mek di amonia bɔku pan big pipul ɛn pikin dɛn.
• Hepatic encephalopathy : Dis kin apin we di liva dɔn pwɛl ɛn i nɔ kin ebul fɔ prosɛs amonia fayn fayn wan. Amonia kin gɛda na di blɔd ɛn travul go na di bren. Dis kin mek pɔsin kɔnfyus, i kin mek i nɔ ebul fɔ no wetin i want , ɛn i kin ivin mek i kam na kɔma. Sɔntɛnde, i kin kil pɔsin.
• Sirosis na di liva: Sirosis na di riplesmɛnt fɔ di wɛlbɔdi liva tisu wit ska tisu. Dis kin mek di liva nɔ de wok fayn ɛn i kin mek yu gɛt haypa amɔnimia. Sirosis na wan sik we nɔ de mɛn na di liva.
• Acute liver failure: Dis na we di liva kin stɔp fɔ wok wantɛm wantɛm. I kin kam bikɔs ɔf difrɛn sik ɛn kɔndishɔn dɛn. Fɔ ɛgzampul, di injury we pɔsin kin gɛt we i gɛt drɔg bikɔs ɔf sɔm mɛrɛsin dɛn lɛk asetaminofɛn , kin mek 50% pan ɔl di wan dɛn we kin gɛt akyu liva fayl na Amɛrika. I de mek 64% pan di kes dɛm we gɛt haypaammonemia pan pikin dɛm.
• di bכdi we de fכlכ yu liva dεn dכn: If blכd nכ de fכlכ fayn fayn wan na yu liva, di bכdi nכ go ebul fכ sεnd amonia to di liva fכ mek dεn proכses am. Ivin da tɛm de, amonia kin gɛda na di blɔd.
• Di sik we dɛn kɔl Reye in sindrom:Dis na tin we nɔ kin apin so ɔltɛm. I kin afɛkt di blɔd, di bren, ɛn di liva. I kin mek di amonia we de na di blɔd go ɔp ɛn di glukɔs we de na di blɔd go dɔŋ. I kin afɛkt yɔŋ pikin ɛn yɔŋ pipul dɛm we de wɛl frɔm vayral infɛkshɔn lɛk chikinpoks ɔ di flu/influenza ɛn we dɔn tek aspirin fɔ dɛn simptom dɛm de. Wi nɔ no di rayt tin we kin mek pɔsin gɛt di sik we dɛn kɔl Reye’s syndrome. Bɔt bikɔs ɔf dis risk, dɛn nɔ fɔ gi aspirin to yɔŋ pikin dɛn ɛn yɔŋ pipul dɛn pas nɔmɔ dɔktɔ tɛl dɛn klia wan.

Bikɔs ɔf di Yuria Saykl Disɔda (UCD) .

as wi bin dכn tכk bכt, di yuria saykl na di prכsεs we di tכxik amonia de kכnvכlt to yuria εn kכmכt na di urine. dis saykl gεt sεvεra stεp dεm, εvri wan pan dεm nid difrεn kayn εnzym. Dɛn ɛnzaym ya na:

• N-asetil-glutamεt sεntez (NAGS) .
• Kabamoyl fosfεt sεntez (CPS) .
• Ɔrnitin transkarbamaylɛz (OTC) .
• Argininosuccinate sintetaz (AS) we dɛn kɔl .
• Argininosuksinik asid lyaz (ASL) .
• Arginaz (ARG1) we dɛn kɔl .

if wan pan dεn εnzym dεm ya nכ de, di yuria saykl nכ de wok fayn. Amonia kin bɔku insay di blɔd. dis kayn εnzym dεm we dεn nכ gεt dεn kכl am yuria saykl dizכrd (UCD). UCD kin mek yu gɛt hyperammonemia, we kin bi akyu ɔr we nɔ de mɛn. UCD na kɔndishɔn dɛn we dɛn bɔn wit. di nyu bכn pikin dεm we dεn nכ gεt wan yuria saykl εnzym kכmplit wan kin gεt akyu haypaammonemia insay 24 to 72 awa afta dεn bכn dεm. Ilɛksɛf di ɛnzaym we nɔ de na di bɔdi smɔl ɔ smɔl, di amonia we de bɔku kin apin ɛni tɛm na layf, we pɔsin sik, strɛs, ɔ ɔda tin dɛn we kin mek pɔsin strɛs. Dɛn UCD ya de mek 23% pan di kes dɛm we gɛt akyu haypaammonemia pan yɔŋ pikin dɛm we sik bad bad wan.

Ɔda rizin dɛn

Apat frɔm dis, sɔm ɔda rizin dɛn kin de:

• di kidni (rεnal) fεil: If di kidni dεm nכ ebul fכ kכl yuria fayn fayn wan biכs fכ di kidni fεil, i kin mek amonia kכlכm na di bכdi.
• Sɔm blɔd dizayd: Haypa amonia kin kam bak bikɔs ɔf blɔd disɔda lɛk multiple myeloma ɛn acute leukemia.
• Sɔm infεkshכn dεm: כganism dεm we de prodyuz yuriaz lεk Proteus mirabilis , Escherichia coli (E. coli) εn KlebsiellaBaktri infεkshכn lεk streptococci, spεshal wan pan pikin dεm we dεn bכn wit dεn urinary tract difεkshכn εn pan ol pipul dεm we dεn gεt urinary tract infεkshכn (UTIs), kin mek dεn gεt siriכs haypaammonemia.

Wetin na di sayn dɛm fɔ Hyperammonemia?

Di sayn dɛm kin difrɛn bad bad wan dipen pan aw di sik nɔr kin pasmak ɔr kin tranga, ɛn bak di ej wae i kin gɛt.

Mild symptoms wae kin kam pan pikin ɛn big pipul dɛm

• Nɔs ɛn vɔmit
• Bɛlɛ de pen
• Fɔ vɛks ɔltɛm
• Ɛd we de at (ed we de at) .
• I nɔ izi fɔ balans, fɔ kɔdinɛt, ɛn fɔ tɔk (ataxia) .
• Di we aw pipul dɛn de biev kin chenj

Ɔda smɔl smɔl sik dɛn we kin jɔs afɛkt pikin dɛn

• Fɔ nɔ ebul fɔ go bifo
• Di mɔsul dɛn we wik (hypotonia) .
• Nyurodivεlכpmεnt dilay dεm

Sivεr sayn dεm na pikin dεm εn big pipul dεm

Dɛn tin ya na sayn dɛn we rili denja. If yu gɛt ɛni wan pan dɛn tin ya, yu fɔ go to dɔktɔ wantɛm wantɛm.

• Kɔnfyushɔn ɛn disorienteshɔn
• Di we aw pɔsin de fil kin chenj
• Fɔ slip pasmak
• Di chenj dɛn we de apin na di kɔnshɛns
• Di sik dɛn we kin mek pɔsin sik
• Fɔ blo kwik kwik wan (Hyperventilation) .
• Kɔma

Wonin: If yu ɔ pɔsin we de nia yu gɛt dɛn sik ya, duya kɔl 911 wantɛm wantɛm, ɔ go na di imejensi dipatmɛnt na di ɔspitul we de nia yu. If di amonia we de na di blɔd bɔku, dat kin mek pɔsin in layf de pan denja ɛn i nid fɔ go to dɔktɔ wantɛm wantɛm!

Di simptom dεm na di nyu bεlε pikin dεm

If di pikin we dɛn jɔs bɔn gɛt di sik we dɛn kɔl haypa amɔnimia, dɛn tin ya kin apin insay 24 to 72 awa afta dɛn bɔn am:

• Fɔ vɛks bɔku tɛm, fɔ kray ɔltɛm
• Fɔ vɔmit
• Letargy we pɔsin kin taya
• Di sik dɛn we kin mek pɔsin sik
• Grunting we yu de blo
• Fɔ blo kwik kwik wan (Hyperventilation) .

Impɔtant: If yu pikin sho dɛn sik ya, kɔl di dɔktɔ wantɛm wantɛm if yu stil de na ɔspitul. If yu de na os, kɔl 911 wantɛm wantɛm, ɔ kɛr dɛn go na di ɔspitul we de nia yu. Dis nɔto sɔntin we wi fɔ delay.

Aw dɔktɔ dɛn kin no bɔt dis?

Dɔktɔ dɛn kin sɔprayz se di amɔnia gɛt bɔku bɔku amonia bay we dɛn de tɛst di amonia lɛvɛl na di blɔd.

• fכ pikin dεm we ol wan mכnt, if di amonia lεvεl na di bכdi pas 80 maykromol/lita (80 maykromol/L).
• fכ big pikin dεm, if i pas 55 maykromol/lita (55 maykromol/L).
• pan big pipul, if i pas 30 maykromol/lita (30 maykromol/L).

dis yunit fכ mכtalman (maykromol/L) na we fכ mכsu di amonia we de na di bכdi.

Us tɛst dɛn kin du fɔ no dis?

Di men tɛst na blɔd tɛst we de no di lɛvɛl we di amonia de na yu blɔd. If yu amonia lɛvɛl bɔku, yu dɔktɔ kin du ɔda tɛst fɔ no di kɔz. Fɔ ɛgzampul, dɛn kin du blɔd tɛst fɔ chɛk aw yu liva de wok ɛn aw yu kidni de wok , ɛn dɛn kin du yu urine . Bikɔs haypaammonemia kin pwɛl di sɛntral nervɔs sistɛm ɛn i kin mek pɔsin in layf de pan denja, yu dɔktɔ kin du imej tɛst dɛn bak, lɛk CT (computed tomography) skan ɔ MRI (magnetic resonance imaging) skan, fɔ chɛk fɔ si if i gɛt prɔblɛm dɛn we de afɛkt di bren.

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl hyperammonemia?

Di tritmɛnt dipen pan di tin we mek i apin. Fɔ ɛgzampul, pan big pɔsin, i kin bi bikɔs ɔf di liva sik ɔ di epatik ɛnsefalopathy, ɔ pan pikin we dɛn jɔs bɔn, i kin bi bikɔs ɔf wan yuria saykl dizayd (UCD). insay akyu haypaammonemia, di men gol na fכ ridyus di lεvεl fכ amonia na di bכdi εn kכntrכl spεsifi k kכmplikεshכn dεm lεk sεribra εdima εn inkrεs prεshכn rawnd di bren (intrakranial haypatεnshכn).

• If pikin we dɛn jɔs bɔn gɛt haypa amɔnimia, dɔktɔ dɛn go stɔp fɔ gi dɛn prɔtin (bikɔs amonia kin kɔmɔt we dɛn dayjɛst prɔtin) ɛn bifo dat, dɛn go gi dɛn glukɔs, we na shuga sɔlvushɔn, fɔ gi dɛn kalori. Dɛn go yuz wan tin bak we dɛn kɔl ɛmodayalis . dis involv fכ klin di pikin in bכdi εn pul amonia tru wan dayalaysis mashin εn spεshal filta (lεk atifishal kidni).
• Pipul dεm we gεt pat pan yuria saykl εnzym dεfisiεns (UCD) we de divεlכp haypa amonia biכs fכ strεs, lεk strεs-indyus haypa amonia, dεn de gi dεm bak protin we de pul di protin εn glukכs as kalori. Dɛn kin jɔs du ɛmodayalis if dɛn amonia lɛvɛl nɔ go dɔŋ insay sɔm awa afta dɛn dɔn trit dɛn fɔs.
• di tritmεnt fכ epatik εnεsεfalopathy na fכ ridyus di prodakshכn fכ amonia na di intestinal dεm. Di fɔs layn tritmɛnt na fɔ tek mɛrɛsin we gɛt laktuloz ɛn laktitol . dis shuga dεm de ridyus di prodakshכn εn absכpshכn fכ amonia na di intestinal dεm.

Dɔktɔ dɛn kin tɛl pipul dɛn fɔ it tin dɛn lɛk dis fɔ ɛp pipul dɛn we gɛt yuria saykl dizayd fɔ ridyus di sik we dɛn kin gɛt:

• L-karnitin we dɛn kɔl
• L-ɔrnitin-L-aspartat
• Arginin we gɛt di sik

Yu tink se we dɛn de fɔ avɔyd dis kayn tin?

Bikɔs bɔku tin dɛn de we kin mek pɔsin gɛt di sik we dɛn kɔl hyperammonemia, nɔto ɔl di tin dɛn we kin apin to pɔsin kin ebul fɔ avɔyd. Bɔt yu kin du tin fɔ mek yu nɔ gɛt sɔm kayn sik na yu liva, mɔ di wan dɛn we gɛt fɔ du wit di we aw yu de it ɛn aw yu de liv yu layf. If yu de pan denja fɔ gɛt liva sik, yu dɔktɔ kin tɛl yu fɔ mek dɛn chenj ya na yu layf:

• I nɔ bad fɔ avɔyd ɔ stɔp fɔ drink rɔm.
• Nɔ it ɛn drink dɛn we gɛt trans fat ɔ kɔn sirop we gɛt bɔku fruktɔs.
• Fɔ mek yu nɔ pwɛl yu liva, tek tɛm bad bad wan we yu de yuz mɛrɛsin dɛn we dɛn kin gi yu ɛn we yu nɔ kin bay.
• Fɔ ɛksesaiz ɔltɛm .
• Fɔ stɔp fɔ it rɛd mit.

Fɔ mek yu nɔ gɛt Reye’s syndrome, we na wan sik we kin mek pikin ɛn yɔŋ pipul dɛn gɛt hyperammonemia, nɔ gi pikin dɛn aspirin fɔ di sayn dɛn we de sho se yu gɛt vayral infɛkshɔn (lɛk di flu ɔ chickenpox) pas nɔmɔ dɔktɔ tɛl yu fɔ du dat. Yuria saykl dɛfekt (UCD) nɔ kin bɔku, bɔt dɛn kin gɛt jɛnɛtik tɛst fɔ si if yu gɛt di jin dɛm we kin mek dɛn gɛt am. Tɔk to yu dɔktɔ bɔt dis.

Wetin na di prɔgnosis fɔ dis kɔndishɔn?

Di luk fɔ hyperammonemia, dat na di ebul fɔ wɛl, dipen pan sɔm tin dɛm:

• Aw yu amonia lɛvɛl ay.
• Aw lɔŋ di amonia lɛvɛl dɔn ɛlevɛt.
• Wetin kin mek pɔsin gɛt di sik we dɛn kɔl hyperammonemia?

In jɛnɛral, di lukin-grɔn fɔ haypaammonemia nɔr fayn. If dɛn nɔ trit am ɔ dɛn trit am let, di bren we nɔ go ebul fɔ chenj kin gɛt fɔ du wit bɔku pipul dɛn we de day. I sɔri fɔ no se, ilɛk aw dɛn trit nyu bɔbɔ kwik ɔ agresiv wan wit siriɔs haypa amɔnimia, no garanti nɔ de fɔ se di tin we go apin go fayn. Insay Amɛrika, di 11 ia sɔvayv rɛt fɔ pipul dɛm we gɛt yuria saykl dɛfɛkt (UCD) we gɛt haypaammonemia ali na layf na lɛk 35%. fכ dεn wan dεm we gεt haypaammonemia leta na layf, di rεt we dεn de liv na bכt 87%. Di wan ia ɛn tri ia sɔvayv rɛt fɔ di pasɛnt dɛn we gɛt siriɔs ɛpatik ɛnsɛfalopati bikɔs ɔf haypaammonemia na 42% ɛn 23%, rispɛktvɔli.

Wetin na di prɔblɛm dɛn we kin apin we pɔsin gɛt haypa amɔnimia?

if dεn nכ trit dis kכndyushכn kwik kwik wan, di εlevεt amonia lεvεl kin pwεl di sεntri nεv sεstem εn i kin mek i gεt kכmplikεshכn dεm we de mek yu layf de pan denja. Dɛn kayn prɔblɛm dɛn ya na:

• Sεribral εdima
• di prɛshɔn we de go ɔp rawnd di bren (Intracranial hypertension) .
• di bren hεnia – Dis kin kכz fכ di bren we de swel εn di prεshכn we de go כp rawnd di bren.
• Kɔma
• Day

If pɔrsin gɛt chronic mild hyperammonemia fɔ lɔng tɛm, i kin gɛt intɛlektual disabiliti ɛn pɔrmɛnt bihayvya ɛn saykayatrik prɔblɛm.

Ustɛm wi fɔ go to dɔktɔ?

If yu ɔ pɔsin we yu bisin bɔt gɛt sayn dɛn we de sho se yu gɛt haypa amɔnimia, kɔl 911 wantɛm wantɛm ɔ go na di ɔspitul we de nia yu. Dis nɔto sɔntin we wi fɔ delay. If yu gɛt liva sik ɔ sɔm pat pan yuria saykl ɛnzaym dɛfisiɛns, i rili impɔtant fɔ go to yu dɔktɔ ɔltɛm fɔ manej yu kɔndishɔn ɛn fɔ wach yu amonia lɛvɛl.

Hyperammonemia na siriɔs sik wae kin kam wit sɔm tin dɛm. If yu, yu pikin, ɔ yu pikin gɛt dɛn sik ya, go to ɛp wantɛm wantɛm. If yu gɛt liva sik, ɔ if pɔrsin na yu famili gɛt yuria saykl disɔda (UCD), tɔk to yu dɔktɔ bɔt yu risk fɔ gɛt hyperammonemia. Dɛn de de fɔ ɛp yu.

Fɔ dɔn, mɛmba dis.

Okay, so na sɔm pan di impɔtant tin dɛn we yu nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt:

• Hyperammonemia na wan denja ay levul of amonia na di blɔd. Dis kin rili ambɔg wi bren ɛn wi nervɔs sistɛm.
• Bɔku rizin dɛn kin de fɔ dis. Liva prɔblɛm ɛn yuria saykl dizayd (UCD) na di men tin we kin mek yu gɛt dis sik.
• Di sayn dɛm kin difrɛn difrɛn wan fɔ di kayn sik ɛn di ej wae pɔrsin dɔn ol. Dɛn kin kɔmɔt frɔm smɔl smɔl sayn dɛm lɛk fɔ nɔs, vɔmit, ɛn ed pen to mɔr siriɔs sayn dɛm lɛk fɔ kɔnfyus, fɔ gɛt sik, ɛn fɔ kɔma. Nyu bɔn pikin dɛn bak fɔ wɔri mɔ bɔt di sik dɛn we dɛn kin gɛt.
• If yu gɛt siriɔs sik, yu fɔ go to dɔktɔ ɛn nɔ de te. Dis kin bi tin we kin mek pɔsin day ɔ day.
• Di tritmɛnt dipen pan di tin we mek i apin. Di tritmɛnt kwik kwik wan kin ridyus di amonia lɛvɛl ɛn kɔntrol di kɔmplikeshɔn dɛn.
• Pan ɔl we dɛn nɔ go ebul fɔ avɔyd sɔm tin dɛn we kin mek yu gɛt prɔblɛm, yu kin ridyus sɔm prɔblɛm dɛn if yu kɔntinyu fɔ liv fayn layf ɛn kia fɔ yu liva .
• Ilɛksɛf yu gɛt liva sik ɔ pɔsin na yu famili gɛt UCD, i impɔtant fɔ mek yu de chɛk yu ɔltɛm.

Nɔ fɔgɛt, yu sabi yu wɛlbɔdi pas ɔlman. If yu fil ɛnitin we difrɛn ɔ we nɔ kɔmɔn, nɔ fred fɔ tɔk to dɔktɔ. Hyperammonemia, amonia, liva, yuria saykl, bren, di simptom dɛm, tritmɛnt