Wi ɔl no se wi bɔdi kin gɛt di tin dɛn we i nid frɔm di it we wi de it. Dɔn bak, we wi de du dis, wi bɔdi kin mek tin dɛn we wi nɔ want, ɛn sɔntɛnde i kin gɛt pɔyzin. So, wi bɔdi gɛt wan rili wɔndaful sistɛm fɔ filta dɛn pɔyzin ya we wi nɔ want ɛn kɛr di gud tin dɛn ɔlsay na di bɔdi. Bɔt, wetin kin apin if wikɛd tin de na dis ‘filta’ sistɛm? Dat na wan pan di impɔtant tin dɛn we wi go tɔk bɔt tide.
Wetin na di Yuria Saykl? Lɛ wi ɔndastand am rili simpul wan!
Tink bɔt di yuria saykl lɛk filta sistɛm we de pul di pɔyzin dɛn na wi bɔdi. I de ɛp fɔ pul bad bad tin dɛn na wi bɔdi ɛn transpɔt fayn fayn tin dɛn ɔlsay na di bɔdi.
Dis prɔses kin bigin afta wi dɔn it. di protin dεm we de insay di it dεm we wi de it de brok insay wi bכdi to amino asid dεm . dis amino asid dεm na di bεs yunit dεm fכ di protin dεm. Jɔs lɛk aw dɛn nid brik fɔ bil bildin, dɛn amino asid dɛn ya impɔtant fɔ mek dɛn bil mɔsul dɛn, kɛr di tin dɛn we dɛn nid fɔ it, ɛn fɔ mek di ɔgan dɛn wok fayn fayn wan.
Naw, we dɛn dayjɛst dis prɔtin, dɛn kin mek wan gas we dɛn kɔl amonia as dɔti tin. Dis amonia rili pɔyzin to wi bɔdi. so, fכ pul dis tכxik amonia, di εnzym dεm na wi bכdi - dat na, spεshal protin dεm we de kכmכt kεmikכl riakshכn - de kכnvכlt dis amonia to wan tin we nכ de du bad we dεn k כl yuria na di liva. Dis yuria gɛt sɔm ɔda amino asid dɛn wit amonia:
- Arginin we gɛt di sik
- Ɔnitin we dɛn kɔl
- Sitrulin we dɛn kɔl Citrulline
afta dat, dεn εnzym dεm ya kin kכri yuria tru di bכdi to di kidni dεm. di las step na di yuria saykl na fכ pul dis yuria insay wi urine. Na so di yuria saykl de wok, insay simpul we.
So, wetin na yuria saykl dizayd?
Yuria Saykl Disɔda (UCD) na wan grup we de mek di prɔses we de transpɔt yuria ɔlsay na di bɔdi, lɛk aw wi bin dɔn tɔk bɔt, nɔ de wok fayn. dis kin kכz fכ wan prכtin כ εnzym we dεn nid fכ da prכsεs de we dεn nכ gεt כ we dεn nכ de.
Dis na jεnεtik kכndishכn , we min se na sכmtin we de de frכm we dεn bכn am. Dɔktɔ dɛn kɔl am Inborn Error of Metabolism . Dis kin mek di pɔyzin amonia gɛda na wi blɔd. Dɛn kɔl dis Hyperammonemia . Dis sik kin rili ambɔg wi bɔdi, mɔ di bren ɛn ɔda pat dɛn .
Sɔm kayn yuria saykl disɔda de?
Yes, et de sik dεm we dεn no se na yuria saykl dizכrd. εvri wan pan dεm de kכz fכ wan dεfisit na wan spεsifi k εnzym כ protin we nid fכ di yuria saykl:
- N-asetilglutamεyt sεntez (NAGS) dεfisiεns
- Kabamoylfosfεt sεntetεz I (CPS1) dεfisiεns
- Ornithine transcarbamylase (OTC) we nɔ de wok fayn
- Argininosuccinate synthase 1 (ASS1) dεfisiεns כ Citrullinemia tayp I
- Sitrin dɛfisiɛns ɔ Citrullinemia tayp II
- Argininosuccinic lyase (ASL) we nɔ de wok fayn
- Arginase (ARG) we nɔ de wok fayn
- Ornithine translocase we nɔ de wok fayn
pan ɔl we dis kin tan lɛk sayɛns smɔl, wetin ɛni wan pan dɛn min na dat prɔblɛm de na wan patikyula stɛp na di yuria saykl.
Udat kin gɛt dis sik?
Dis na wan jenɛtik kɔndishɔn we kin afɛkt ɛnibɔdi. Dɛn kin no se nyu pikin dɛn gɛt di sik we dɛn kɔl Universal Newborn Screening Blood Tests, we dɛn kin du insay sɔm dez afta dɛn bɔn dɛn. Bɔt sɔntɛnde, di sayn dɛn kin apin leta na layf. If na so i bi, dɛn kin no bak se big pipul dɛn gɛt dis sik.
Dis na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?
Yes, yuria saykl dɛfisiɛns na wan kɔndishɔn we dɛn kin gɛt frɔm dɛn mama ɛn papa . Bɔrku tɛm, fɔ mek yu gɛt dis sik, yu nid fɔ gɛt wan jenɛtik muteshɔn frɔm yu mama ɛn papa ɔl tu. dis dεn kכl am כtosom rεsεsiv transmishכn. Sɔm kayn dɛn kin pas to yu pikin dɛn afta dɛn gɛt bɛlɛ, we gɛt fɔ du wit wan sɛks kromozom. Dɛn kɔl dis X-linked transmishɔn.
Aw kɔmɔn tin dis kin apin?
Insay Amɛrika, dɛn se dis sik kin afɛkt lɛk wan pan ɛvri 35,000 pipul dɛn. Pan ɔl we dɛn nɔ gɛt di rayt statystik na Sri Lanka, dɛn kin tek dis as tin we nɔ kin apin.
Wetin na di sayn dɛm we de sho se yu nɔ gɛt yuria saykl?
di fכs sayn dεm fכ dis kכndyushכn kin de we dεn bכn am. Bɔt dɛn sik ya kin apin pan ɛni ej. Si if dɛn sayn ya kin tan lɛk se yu sabi:
- Drowsiness, taya pasmak (Lethargy) .
- Fɔ kray ɔltɛm ɛn nɔ kin rɛst pan pikin dɛn (Fussiness in bebies) .
- Nɔs ɔ vɔmit
- Nɔ ebul fɔ it ɔ fid
- Fɔ brith tu fast ɔ tu slo
- Kɔnfyushɔn, we pɔsin nɔ de no natin
Dɛn sayn ya kin kam bikɔs di amonia we de na di blɔd de bɔku (Hyperammonemia). Dɛn sayn ya kin kɔmɔt frɔm smɔl to siriɔs . Yu kin si tin dɛn bak lɛk:
- Prɔblɛm wit kɔgnitiv divɛlɔpmɛnt ɛn intɛlektual chalenj
- Di we aw pipul dɛn de biev kin chenj
- divεlכpmεnt delay - Dis min se di pikin in divεlכpmεnt nכ fit in ej.
- Fluid we de gɛda rawnd di bren (Sεribral Ɛdima) .
- Di mɔsul dɛn we de stif, we de twit (Spasticity) .
- Epileptic kondishɔn, sik we de mek pɔsin sik
- Wan stet we pɔsin nɔ de no natin, we na kɔma
Impɔtant: Di sayn dɛm wae de afɛkt yu bren kin mek yu layf de pan denja, so i impɔtant fɔ go to dɔktɔ kwik kwik wan if yu gɛt dɛn sik ya.
Wetin na di rizin fɔ dis?
As wi bin dɔn tɔk, di yuria saykl dɛfisiɛns na bikɔs ɔf wan jɛnɛtik muteshɔn . Ɛni wan pan di kayn dɛn we wi bin dɔn tɔk bɔt, na difrɛn jɛnɛtik muteshɔn kin mek dɛn gɛt am:
- N-asetilglutamat sεntez dεfisiεns: wan mכtεshכn na di NAGS jin.
- Carbamoylphosphate synthetase I dεfisiεns: wan mכtεshכn na di CPS1 jin.
- Ornithine transcarbamylase dεfisiεns: wan mכtεshכn na di OTC jin.
- Argininosuccinate synthase 1 dεfisiεns: wan mכtεshכn na di ASS1 jin.
- Citrin dεfisiεns: Na mכtεshכn na di SLC25A13 jin.
- Argininosuccinic lyase dεfisiεns: wan mכtεshכn na di ASL jin.
- Arginase deficiency: Na muteshon na di ARG jin.
- Ornithine translocase dεfisiεns: wan mכtεshכn na di SLC25A15 jin.
dis jin dεm na dεn de mek di protin dεm εn εnzym dεm we nid fכ transpכt yuria ɔlsay na di bכdi. we di jεnεtik mכtεshכn apin, di bכdi nכ de prodyuz inof pan dεn protin כ εnzym dεm ya. Dɔn, di bɔdi nɔ kin ebul fɔ pul pɔyzin amonia, we kin gɛda na di blɔd ɛn mek pɔsin gɛt sɔm sayn dɛn.
Aw dɛn kin no dis sik?
Yu dɔktɔ go aks yu fɔs bɔt yu sik, du yu bɔdi ɛgzam, ɛn tek wan kɔmplit mɛdikal histri. Dɔn, dɛn kin ɔda fɔ mek dɛn du blɔd ɔ urine tɛst fɔ no if pɔsin gɛt di sik.
Us tɛst dɛn de du fɔ dis?
- Amino asid profayl ɔ analisis: We yu tek sɛmpul pan yu blɔd ɔ yu urine, i de mɛzhɔ di lɛvɛl dɛn we di amino asid dɛn de na yu bɔdi.
- Liva Bayopsi: Dɛn kin tek wan rili smɔl pat pan di liva ɛn chɛk am ɔnda maykroskɔp fɔ si if ɛnzaym dɛn de we gɛt fɔ du wit dis sik ɛn aw dɛn de wok.
- Jɛnɛtik Tɛst: Dɛn kin tek blɔd sɛmpul fɔ chɛk fɔ si if di jɛnɛtik chenj dɛn we kin de mek yu gɛt di sik.
Aw dɛn kin trit dis?
di men gol fכ trit yuria saykl dizכrd na fכ ridyus di amonia na di bכdi. Dis kin bi bay we dɛn:
- Fɔ it tin we nɔ gɛt bɔku prɔtin.
- Dayalaysis: Na tin we dɛn kin du fɔ pul di pɔyzin dɛn we de na di blɔd. Dɛn kin kɔl dis bak ɛmodayalis .
- Yuz mεdikeshכn: Mεdikeshכn dεm lεk Sodium Phenylacetate εn Sodium Benzoate (e.g. Ammonul® ) de εp fכ pul amonia frכm di bכdi.
- Fɔ tek Amino Asid Suplimɛnt: Sɔplɛnt lɛk Arginine ɔ Citrulline de ɛp di bɔdi fɔ kɔmplit di yuria saykl.
If i rili siriɔs we pɔsin gɛt haypa amɔnimia, i kin nid fɔ mek dɛn transplant di liva .
Bifo yu bigin fɔ trit yu, tɔk to yu dɔktɔ bɔt di bad tin dɛn we kin apin we yu tek nyu mɛrɛsin ɛn di we aw yu fɔ du am. Dɔn bak, tɛl yu dɔktɔ bɔt ɛni ɔda mɛrɛsin ɔ sɔpɔtmɛnt we yu de tek naw. Dis kin ɛp yu fɔ avɔyd di bad tin dɛn we yu nɔ want.
If yu gɛt yuria saykl disɔda, us it dɛn yu fɔ avɔyd?
Di it we nɔ gɛt bɔku prɔtin na di bɛst we fɔ mɛn dis sik. dis na biכs we di protin we de insay di it we wi de it brok dכn, amino asid dεm de fכm, we de mek amonia. Pɔsin we gɛt yuria saykl disɔda nɔ kin ebul fɔ pul dis amonia bay insɛf. So, if yu it it we nɔ gɛt bɔku prɔtin, dat kin mek yu nɔ gɛt bɔku amonia fɔ gɛda na di blɔd.
Na sɔm pan di men it dɛn we gɛt bɔku prɔtin we yu fɔ stɔp fɔ it:
- Fish
- Fɔl
- Eg dɛn
- Bif
- Di kayn bins dɛn we dɛn kin mek
- Tofu ɔ it dɛn we gɛt soya
Bɔt bikɔs prɔtin impɔtant fɔ wi bɔdi, if wi kɔt am kpatakpata, i kin gɛt bad bad tin dɛn lɛk we i nɔ de gro fayn. So, yu dɔktɔ kin sɛn yu to pɔsin we sabi bɔt it ɔ pɔsin we sabi bɔt it . Dɛn kin ɛp yu fɔ kɔntrol di bɔku prɔtin we yu de it. Sɔntɛnde, yu dɔktɔ kin tɛl yu bak fɔ tek vaytamɛn, minral, ɔ amino asid sɔpɔtmɛnt fɔ ɛp fɔ mek yu nɔ gɛt bɛtɛ tin fɔ it we yu nɔ gɛt bɛtɛ prɔtin.
Yu tink se dɛn kin gi pikin we dɛn jɔs bɔn in mama in bɛlɛ if i gɛt dis sik?
yu pikin de gεt protin frכm in mama in milk. Pan ɔl we yu kin gi pikin in bɛlɛ, bɔku tɛm yu dɔktɔ go de wach aw i de afɛkt yu pikin. If yu nid fɔ ridyus di prɔtin we yu pikin de it, yu dɔktɔ go tɛl yu fɔ gi yu pikin spɛshal fɔmula fɔ pikin instead fɔ gi yu mama in milk.
Yu tink se dɛn go ebul fɔ mek dis tin nɔ apin?
Dis na jɛnɛtik kɔndishɔn ɛn dɛn nɔ go ebul fɔ avɔyd am. If yu de plan fɔ gɛt bɛlɛ ɛn yu want fɔ no di prɔblɛm we kin apin we yu bɔn pikin we gɛt wan sik we yu gɛt, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks .
Us kayn op pɔrsin wae gɛt yuria saykl disɔda kin gɛt?
As yu dɔktɔ no se yu gɛt dis sik so, i go bigin fɔ tek tritmɛnt fɔ ridyus di amonia we de na di blɔd. Fɔ di pikin dɛn we dɛn jɔs bɔn, dɛn go bigin di tritmɛnt wantɛm wantɛm afta dɛn bɔn dɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn. We dɛn dɔn bigin fɔ trit am, di dɔktɔ go wach di amonia lɛvɛl na di blɔd te i kam bak to say we sef.
Dis kɔndishɔn nid fɔ mek dɛn de wach am fɔ ɔl dɛn layf ɛn fɔ it spɛshal it we nɔ gɛt bɔku prɔtin . If yu it bɔku prɔtin, dat kin mek yu gɛt di sik bak.
If di haypa amɔnimia kin kam tranga, i kin mek yu bren pwɛl we yu nɔ go ebul fɔ chenj, i kin mek yu gɛt kɔma, ɔ ivin day. So, tɔk to yu dɔktɔ bɔt aw fɔ kɔntrol yu sik ɔr yu pikin in kɔndishɔn fɔ avɔyd dɛn prɔblɛm ya we go mek yu layf de pan denja.
Wetin na di prɔgnosis fɔ wɛl bɔdi pan dis kɔndishɔn?
Aw yu de si tin kin dipen pan aw yu sik dɛn kin tranga. If yu no se yu gɛt dis sik kwik kwik wan, dɛn trit yu, ɛn mɛn am ɔlsay na yu layf, yu layf kin bi nɔmal. Bɔt if dɛn nɔ trit am ɔ dɛn nɔ no se i gɛt am, i kin kil pɔsin.
Ustɛm a fɔ go to dɔktɔ?
If yu gɛt sayn fɔ dis sik, mɔ if yu de fil bad bad wan ɔ yu nɔ ebul fɔ it , go to dɔktɔ.
As yu pikin de gro, i impɔtant fɔ chɛk fɔ si if i de mit in divɛlɔpmɛnt maylston dɛn . Dat min se if i de du tin dɛn we fit in ej. If nɔto dat, go to dɔktɔ.
If yu ɔ yu pikin gɛt sik ɔ i nɔ izi fɔ blo, go na ɔspitul imejensi rum wantɛm wantɛm.
Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?
- Aw a go ebul fɔ manej mi pikin in kɔndishɔn?
- A fɔ go to pɔsin we sabi bɔt it?
- Wetin na di sayd ɛfɛkt dɛm we di tritmɛnt kin gɛt?
- Us it dɛn a fɔ pul kɔmɔt?
Na nɔmal tin fɔ fil wɔri we yu kam fɔ no se yu ɔ yu pikin gɛt dis kayn sik we nɔ kin apin so ɔltɛm. Yu dɔktɔ kin ɛp yu fɔ kɔntrol di sik. If yu it tin dɛn we nɔ gɛt bɔku prɔtin, yu go ebul fɔ ridyus di we aw di sik de afɛkt yu bɔdi. Dis kin ɛp fɔ ridyus di sayn dɛm ɛn ɛp yu fɔ fil fayn. If yu fil taya ɔltɛm, yu gɛt prɔblɛm fɔ it, ɔ yu gɛt chenj dɛn we nɔ kɔmɔn na yu abit, mek shɔ se yu go to dɔktɔ.
Impɔtant tin dɛn fɔ mɛmba (Take-Home Message) .
Okay, so wi don tok plenti boht Urea Cycle Disorder. Fɔ tɔk smɔl, na sɔm tin dɛn ya we yu fɔ mɛmba:
- Dis na jεnεtik kכndishכn: i min se na sכmtin we dεn bכn yu wit. Wetin kin apin ya na dat wi bɔdi nɔ kin ebul fɔ pul wan pɔyzin we dɛn kɔl amonia fayn fayn wan.
- I rili impɔtant fɔ no kwik kwik wan:Ɛspɛshali fɔ di pikin dɛn we dɛn jɔs bɔn. If yu notis sɔm sayn dɛn, go to dɔktɔ wantɛm wantɛm.
- Tritmɛnt dɛn de: Di men tin na fɔ kɔntrol di lɛvɛl we di amonia de na di blɔd. Dɛn kin du dis wit it we nɔ gɛt bɔku prɔtin, mɛrɛsin, ɛn ɔda tritmɛnt dɛn.
- I nid fɔ de mɛn pipul dɛn fɔ ɔl dɛn layf: If dɛn de manej am fayn, bɔku pipul dɛn kin liv nɔmal layf.
- Fɔ fala di advays we dɔktɔ gi yu: I rili impɔtant fɔ mek yu wɛlbɔdi fala di advays we yu dɔktɔ ɛn pɔsin we sabi bɔt it gi yu di rayt we.
Nɔ panik. De tin wae impɔtant pas ɔl na fɔ no bɔt dis sik ɛn gɛt di rayt mɛrɛsin. If yu gɛt ɛni ɔda kwɛstyɔn, nɔ fred fɔ tɔk to yu dɔktɔ.
` Yuria saykl, amonia, jεnεtik sik dεm, protin mεtabolism, haypaammonemia, pikin dεm sik dεm, mεtabolik dizכrd dεm
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