Dis na inkris pan amonia na yu bɔdi? Mek wi lan bɔt OTC Deficiency!

Yu go dɔn yɛri se if wi bɔdi nɔ gɛt sɔm tin dɛn, big prɔblɛm dɛn kin kam. Na dat dis OTC dɛfisiɛns de tɔk bɔt. Imajin wetin go apin if yu liva nɔ gɛt wan ɛnzaym we yu nid fɔ wok fayn? Pan ɔl we dis na siriɔs stori, gud tritmɛnt dɛn de. Lɛ wi tɔk mɔ bɔt dis, nɔto so?

Wetin na dis OTC dɛfisiɛns rili?

Fɔ tɔk am simpul wan, we yu nɔ gɛt OTC , dat min se yu liva nɔ ebul fɔ mek wan ɛnzaym we dɛn kɔl Ornithine Transcarbamylase (OTC) fayn fayn wan. dis OTC enzym rili imכtant biכs i de εp fכ pul wan tכxik tin we dεn k כl amonia frכm wi bכdi. So we dis ɛnzaym nɔ bɔku, amonia kin bigin fɔ gɛda na di bɔdi. Dis na rili wan yuria saykl dizayd .

Naw lɛ wi si aw dis kin apin. we wi it protin, di baktri dεm we de na wi intestinal dεm de brok di protin εn mek amonia as west prodakt. afta dat wi liva de tek dis amonia εn kכnvכlt am to yuria insay wan prכsεs we dεn kכl yuria saykl. Na dat di OTC ɛnzaym de fɔ. Dɔn wi kidni dɛn kin filta dis yuria frɔm di blɔd ɛn pul am kɔmɔt as urine. Yu ɔndastand? So wen OTC don go, dis ol proses go haywire.

Wae na de men kayn dis sik?

Di OTC dɛfisiɛns kin bi mɔ to tri kayn, i kin dipen pan di tɛm we i kin tek fɔ mek di sayn dɛm apia:

• Neonatal type: Dis na di kayn we we kin rili bad. di sayn dεm de sho insay di fכs 30 de dεm we dεn bכn am. Dɛn pikin ya nid tritmɛnt kwik kwik wan.
• Intamɛdiet tayp: Dis kin afɛkt pikin dɛn frɔm wan mɔnt to lɛk 16 ia.
• Let-onset type: Dis kin apin afta yu dɔn ol 16 ia, sɔmtɛm i kin kam let lɛk 60. Dis na di wan wae nɔr kin pasmak pan di ɔda tu kayn.

Udat kin gɛt mɔ chans fɔ gɛt OTC dɛfisiɛns?

OTC dɛfisiɛns na rili wan sik we nɔ kin bɔku . Bɔt na di wan we kɔmɔn pas ɔl pan di yuria saykl dizayd. Di wan dɛn we de stɔdi bɔt dis tɔk se i kin afɛkt wan pan ɛvri 14,000 pipul dɛn ɔ wan pan ɛvri 80,000 pipul dɛn ɔlsay na di wɔl. Wetin pas dat, dis sik kin afɛkt bɔy pikin dɛn mɔ ɛn mɔ .

Wetin na di sayn dɛm wae de sho se yu nɔr gɛt OTC?

De sayn dɛm fɔ dis sik kin difrɛn difrɛn wan bay di tɛm wae i bigin. Na pikin dɛm we dɛn jɔs bɔn, di sayn dɛm kin rili bad. Dɛn sik ya kin apin mɔ afta yu it it we gɛt bɔku prɔtin.

Di simptom dεm na di nyu bεlε pikin dεm

If pikin gɛt dis sik, yu kin si tin dɛn lɛk dis:

• Dɛn nɔ gri fɔ it ɔ drink, ɛn dɛn nɔ de drink milk.
• Fɔ vɔmit ɔltɛm.
• I kin rili wɔri, i kin kray ɔltɛm.
• Ɔltɛm fil fɔ slip ɛn nɔ gɛt layf (`Lethargy`).
• Sɔm kayn sik kin apin.
• Bɔdi we nɔ gɛt layf, lɛk wan pis klos (`Hypotonia`).
• di liva kin swel εn big (`Hepatomegaly`).

Imajin aw mama go fred if sɔntin lɛk dis apin to pikin we dɛn jɔs bɔn . Na dat mek i rili impɔtant fɔ no bɔt dɛn sik ya.

Di sayn dɛm fɔ pikin dɛm frɔm wan mɔnt to 16 ia

Pikin dɛn we dɔn pas wan mɔnt ɛn we nɔ rich 16 ia yet kin gɛt di sik dɛn we wi dɔn tɔk bɔt. Apat frɔm dat, yu kin si dɛn tin ya bak:

• Kɔnfyushɔn, na wan stet we pɔsin kin kɔnfyus na in maynd.
• Delirium, lɛk fɔ si tin dɛn we yu de si.
• Lɔs pan balans ɛn nɔ ebul fɔ waka fayn (`Ataxia`).

Di sayn dɛm wae kin kam pan big pipul dɛm

If dis sik apin to big pɔsin, ɔda sayn dɛn kin apin, apat frɔm di sayn dɛn we kin apin to yɔŋ pikin dɛn we wi bin dɔn tɔk bɔt:

• Vɔmit.
• Ed pen lɛk maygren.
• I nɔ izi fɔ tɔk, fɔ tɔk slɔp (Dysarthria).
• Hallucinations na fɔ si ɔ yɛri tin dɛn we nɔ de.
• Yu nɔ de si fayn ɔ ɔda tin dɛn we de ambɔg yu we yu de si.

Wetin mek dis OTC dɛfisiɛns kin apin? Wetin na di tin dɛn we kin mek i apin?

OTC dɛfisiɛns na wan jenɛtik disɔda . Dis min se na di chenj we de apin na wi DNA de mek i apin. Risach pipul dɛn dɔn no te naw lɛk 400 DNA chenj dɛn we kin mek pɔsin gɛt dis sik. Bɔt insay sɔm kes dɛm (lɛk 20 pasɛnt pan di kes dɛm), i kin bi bak bikɔs ɔf wan chenj na DNA we dɛn nɔ kin ebul fɔ no bay we dɛn de tɛst am.

tu men we dεn de we dεn chenj dεm ya na DNA (`DNA`) kin apin:

• Inhɛrit: Bebi kin gɛt dis DNA muteshon frɔm in mama. If dis apin, bɔy pikin go gɛt di sik. If gyal pikin na pɔsin we de kɛr am, i go afɛkt am. Dis kin difrɛn frɔm wan kɔntri to ɔda kɔntri, bɔt i kin bi bitwin 36% ɛn 80% pan di kes dɛm.
• di tכp we nכ de inhεrit (de novo): insay dis kes, di pikin nכ de inhεrit di DNA chenj. dis min se di chenj bin apin randomly we di pikin bin de divεlכp na di mama in bεlε.

Inhɛrit OTC dɛfisiɛns na X-linked kɔndishɔn . dis min se na uman dεm nכmכ de kכriכnt εn dεn nכ de gεt di ful sik. Bɔt, dɛn kin stil gɛt sɔm sayn dɛn. Risach dɔn sho se bitwin 10% ɛn 20% pan di uman dɛm we gɛt di sik go gɛt sɔm kayn sik na dɛn layf.

Us kɔmplikɛshɔn kin apin bikɔs ɔf di OTC dɛfisiɛns?

If yu nɔ gɛt OTC, dat kin mek yu gɛt bɔku amonia na di blɔd. Dis ay levul of amonia na di blɔd (Hyperammonemia) na pɔyzin to di bren . Dis kin mek yu gɛt mɛtabolik ɛnsɛfalopati.If dis kin tranga ɔr kin te fɔ lɔng tɛm, siriɔs prɔblɛm kin kam lɛk:

• Intɛlektual disabiliti ɛn divɛlɔpmɛnt dilɛys.
• Nyurolɔjik dizayd lɛk sɛribra palsi.
• Fɔ fɔdɔm na kɔma min fɔ lɛ yu nɔ no natin igen.
• Bɔt i sɔri fɔ no se ivin day kin apin.

Dɛn kɔmplikeshɔn ya kin mɔs, ɛn dɛn kin rili bad, pan nyu bɔbɔ dɛn we gɛt OTC dɛfisiɛns.

OTC we yu nɔ gɛt kin rili denja we yu gɛt bɛlɛ. Bɔt i pɔsibul fɔ kɔntrol di sik we uman gɛt bɛlɛ ɛn gɛt pikin we gɛt wɛlbɔdi. If yu gɛt OTC dɛfisiɛns, ɔ if sɔmbɔdi na yu famili gɛt histri bɔt dis sik, i fayn fɔ tɔk to yu ɔbstetrishan ɛn gaynekɔlɔjis (`Ob/Gyn`). Dɔn dɛn kin woke wit di dɔktɔ dɛm wae de trit yu OTC dɛfisiɛns fɔ kɔdinɛt di kia wae yu nid.

Aw dɔktɔ dɛn kin no (diagnose) OTC dɛfisiɛns?

Dɛn kin no mɔ bɔt di OTC we dɛn kin du am tru lɛbɔtri tɛst, mɔ di blɔd tɛst ɛn urine tɛst. Bɔku tɛm, dɛn kin no am bifo dɛn bɔn pikin tru DNA tɛst. Bɔt pan ɔl we OTC dɛfisiɛns na jɛnɛtik kɔndishɔn, dɛn tɛst ya nɔ go ebul fɔ no ɔl di chenj dɛn we de apin na di DNA we kin mek i apin. Dis na bikɔs bɔku difrɛn chenj dɛn de na di DNA we kin mek i apin.

Dipen pan di lɔ ɛn rigyuleshɔn dɛn na di kɔntri we yu de, wan sistɛm kin de fɔ tɛst ɛvri nyu bɔbɔ fɔ si if i gɛt OTC. Na dɛn kayn ples ya, di chans fɔ no di sik kwik kwik wan kin bɔku.

Bɔt na say dɛn we dɛn nɔ gɛt dɛn kayn standad tɛst ya, i kin at fɔ ivin dɔktɔ dɛn we gɛt ɛkspiriɛns fɔ no di sik afta dɛn bɔn di pikin. Dis na bikɔs di sayn dɛm nɔr kin rili klia na di fɔs tɛm ɛn kin tan lɛk ɛni ɔda sik. If i rili bad, amonia pɔyzin kin mek yu bren pwɛl bifo dɔktɔ dɛn ivin no di sik.

Wetin na di tritmɛnt fɔ OTC dɛfisiɛns?

Di gud nyus na dat gud tritmɛnt dɛn de fɔ OTC dɛfisiɛns. Sɔm impɔtant tin dɛn de we yu fɔ mɛmba we yu de trit dis:

• Fɔ ridyus di amonia we de na di blɔd: If ɛnitin apin, dayalaysis kin pul amonia kɔmɔt na di blɔd kwik kwik wan.
• Ɔda pathways therapy: Dɛn gɛt mɛrɛsin dɛn we de pul naytrɔjen. Dɛn tin ya kin wok bay we dɛn kin kech naytrɔjen, prosɛs am ɔda we dɛn, ɛn mek amonia nɔ fɔm. Sɔm ɛgzampul dɛn na drɔgs lɛk Sɔdiɔm Fɛnilasɛtat ɛn Sɔdiɔm Bɛnzoɛt.
• di chenj dεm we de apin na di it: fכ ridyus εn mεnεj di protin we yu de it imכtant f כ kip di bכdi amonia lεvεl na sef lεvεl.fכ du dis, yu nid fכ prayoritayz fכ gεt kalori frכm kabohaydret (`kab`) εn fεt (`fεt`).
• supliment: di imכtant amino asid dεm we dεn nכ kin gεt frכm protin fכ tek as supliment.
• Fɔ wach di amonia lɛvɛl na di blɔd: We yu de du blɔd tɛst ɔltɛm, dat kin ɛp fɔ no di amonia lɛvɛl na di blɔd bifo i go ay pasmak.

if dεn no di OTC dεfichεshכn bifo dεn bכn di pikin, i kin pכsibul fכ stat tritmεnt fכ di pikin we de insay di bεlε. if yu gi di mama dεn כda mεdisin ya jכs bifo dεn bכn di pikin, i kin εp fכ kip di pikin in amonia lεvεl na sef lεvεl afta dεn bכn am.

Yu tink se dɛn kin wɛl ɔl di OTC dɛfisiɛns?

Yes, we de fɔ mɛn OTC dɛfisiɛns. Dat na fɔ transplant liva . Insay dis, dɛn kin pul yu liva we sik ɛn transplant wan wɛlbɔdi liva. Dat liva kin mek di OTC ɛnzaym. Afta di liva transplant, yu kin it nɔmal, it we gɛt fayn fayn tin dɛn ɛn yu nɔ go nid fɔ tek mɛrɛsin dɛn we de mek yu nɔ gɛt amonia.

Bɔt i sɔri fɔ no se, fɔ transplant liva nɔ kin rili kɔmɔn fɔ dis sik fɔ difrɛn rizin dɛn. Dɔn bak, pipul dɛn we dɛn dɔn transplant di liva fɔ tek di imyun suprɛsant fɔ di res ɔf dɛn layf fɔ mek dɛn nɔ rijek di ɔgan we dɛn transplant. Yu dɔktɔ kin tɛl yu mɔ bɔt liva transplant ɛn aw dɛn kin afɛkt yu.

Naw dɛn de invɛstigat jin tɛrapi fɔ OTC dɛfisiɛns bak. Dis tritmɛnt kin bi ɔda we fɔ du tin tumara bambay pas fɔ transplant liva fɔ di sik.

Wetin yu kin ɛkspɛkt we yu de liv wit OTC dɛfisiɛns?

Wetin yu kin ɛkspɛkt wit OTC dɛfisiɛns kin difrɛn difrɛn wan fɔ di kayn sik. Di mɔ di sik bad, na di mɔ yu nɔ go it bɔku prɔtin sef wan. Bɔrku pipul dɛm wae gɛt OTC dɛfisiɛns kin lɛk fɔ it vegetarian it ivin bifo dɛn no se dɛn gɛt dis sik, bikɔs i kin izi fɔ dɛm. Yu dɔktɔ go gayd yu fɔ no ɔmɔs prɔtin yu kin it ɛn aw fɔ wach am.

Ɔl togɛda, fɔ gɛt OTC dɛfisiɛns kin gɛt bɔku impak pan yu layf. di lεvεl dεm fכ amonia na di bכdi kin inkrεs di risk fכ kכmplikεshכn lεk intellectual disability. Na dat mek i rili impɔtant fɔ kip di amonia lɛvɛl smɔl.

Bɔt wit di monitarin, tritmɛnt, ɛn it we nɔ gɛt bɔku prɔtin, OTC dɛfisiɛns na wan kɔndishɔn we dɛn kin ebul fɔ kɔntrol bɔku pan . I impɔtant fɔ wach di amonia lɛvɛl na yu blɔd ɔltɛm fɔ mek shɔ se i nɔ go ɔp. If yu blɔd amonia lɛvɛl go ɔp, tritmɛnt kin ɛp fɔ mek i go dɔŋ.

Aw lɔŋ OTC dɛfisiɛns kin las?

OTC deficiency na congenital condition , min se dɛn bɔn yu wit am, ɛn i kin las fɔ yu layf. Liva transplant na di wangren mɛrɛsin we dɛn kin gɛt.

Wetin na di fiuja fɔ pɔsin we gɛt OTC dɛfisiɛns?

Di prɔgnosis fɔ pɔsin we gɛt OTC dɛfisiɛns de dipen mɔ pan ustɛm di simptom dɛn fɔs apia. 2020 risach sho se di sik pipul dɛm we de prɛzɛnt na midul ej ɛn ol ej gɛt bɛtɛ prɔgnosis. di rεt we dεn de day de kכmכt frכm 8% to 13%.

Bɔku tɛm, na di nyu bɔn pikin dɛn kin gɛt di sik pas ɔl, ɛn di wan dɛn we kin day kin bɔku bak. Bɔt da pipul dɛn de we de day dɔn rili smɔl naw pas di ia dɛn we dɔn pas. Wan 30 ia stכdi we dεn du frכm 1971 to 2011 sho se di rεt fכ di nyu bכbi dεm we de day na 74%. Bɔt wan stɔdi we dɛn du afta dat frɔm 2001 to 2013 sho se di nɔmba fɔ pipul dɛn we de day dɔn go dɔŋ to 43%. Dis de sho aw difrɛns dɔn de wit di we aw dɛn de go bifo pan mɛrɛsin sayɛns.

I gɛt we fɔ mek dɛn nɔ gɛt OTC?

No we nɔ de fɔ mek dɛn nɔ gɛt OTC. Bɔt yu kin gɛt advays bɔt yu jɛnɛtiks bifo yu bɔn pikin. Pan ɔl we dis nɔ kin ebul fɔ mek yu nɔ gɛt dis sik, i kin ɛp yu fɔ ɔndastand di chans we yu pikin dɛn gɛt fɔ gɛt dis sik.

Ustɛm yu nid fɔ go na ɔspitul?

If yu ɔ yu pikin gɛt sayn fɔ gɛt ay blɔd amonia (`ammonia`), yu fɔ go na ɔspitul ɔ imejensi rum wantɛm wantɛm . di lכng we di bכdi amonia (`ammonia`) de hכy, na di mכr di risk fכ pwεl bren fכ pwεl. So i nɔ fayn fɔ delay.

Wetin na di impɔtant kwɛstyɔn dɛn we yu fɔ aks yu dɔktɔ?

We yu go si yu dɔktɔ, i go fayn fɔ aks sɔm kwɛstyɔn dɛn lɛk dɛn wan ya:

• Mi OTC dɛfisiɛns na bikɔs ɔf wan jɛnɛtik muteshɔn we dɛn dɔn no naw?
• Yu tink se dɛn fɔ tɛst ɛni ɔda pɔsin na mi famili fɔ si if dɛn nɔ gɛt OTC?
• Wetin na di maksimal protin we a kin tek insay wan de?
• Us tritmɛnt a nid?
• Us supamakit dɛn a fɔ tek?
• Wetin na di sayn dɛm wae kin nid fɔ gɛt tritmɛnt kwik kwik wan?

Fɔ dɔn, sɔm tin dɛn we wi fɔ mɛmba

Ilɛksɛf dis sik afɛkt yu ɔ yu pikin, i nɔmal fɔ gɛt difrɛn kayn filin dɛn we yu kam fɔ no se dis na tin we de apin to yu layf ɔl. Yu kin fil fred, wɔri, ɛn vɛks. Wi kin ɔndastand ɔl dɛn filin ya.

Bɔt yu nid fɔ mɛmba, OTC deficiency nɔto yu fɔlt , ɛn bɔku tɛm na tin dɛn we yu nɔ ebul fɔ kɔntrol kin mek i apin.

Pan ɔl we OTC nɔ gɛt bɛtɛ tin fɔ it na siriɔs sik, di tin dɛn we dɔn apin pan mɛdikal sayɛns dɔn mek dɛn ebul fɔ mɛn am pas aw i bin de sɔm dikɛd ia bifo. Wit rεgulεr mכnitri εn tritmεnt, dεn kin mεnεj di kכndyushכn bכku bכku wan. Pruf de bak we de bɔku fɔ se if pɔsin transplant in liva, i kin mɛn di sik. If yu gɛt ɛni kwɛstyɔn ɔr nid ɛp na di rod, nɔ fɔgɛt fɔ abop pan yu mɛdikal tim. Dɛn de de ɔltɛm fɔ gayd ɛn sɔpɔt yu.

` OTC dεfisiεns, amonia, liva, yuria saykl, jεnεtik sik dεm, protin, pikin dεm sik dεm