Ðe amoniaka le dzidzim ɖe edzi le wò ŋutilã mea? Srɔ̃ nu tso OTC ƒe Gbɔdzɔgbɔdzɔ ŋu kple Nirogi Lanka!

Ðewohĩ èse be wò ŋutilã ƒe akpa veviwo ƒe gbɔdzɔgbɔdzɔ sue aɖe gɔ̃ hã ate ŋu ahe lãmesẽkuxi gãwo vɛ. Ornithine Transcarbamylase (OTC) ƒe anyimanɔmanɔ nye nɔnɔme mawo dometɔ ɖeka tututu. Bu eŋu ale: nukae dzɔna ne enzyme vevi aɖe si hiã be wòawɔ dɔ nyuie mele wò aklã me o? Togbɔ be esia aɖi dɔléle si wokpɔna vevie hã la, taflatse nyae be atikewɔmɔnu nyuiwo li. Le Nirogi Lanka la, míeva afisia be míakplɔ wò ato nyawo me tsitotsito ɖekae, enyoa?

Nuka tututue nye OTC ƒe Gbɔdzɔgbɔdzɔ?

Ne míagblɔe bɔbɔe la, Ornithine Transcarbamylase (OTC) ƒe anyimanɔmanɔ fia be wò aklã ʋlina vevie be yeawɔ OTC enzyme si sɔ. Enzyme sia le vevie ŋutɔ elabena ekpena ɖe ame ŋu wòɖea ammonia —si nye aɖi si dona tso eme—tso wò ʋu me. Ne enzyme sia mesɔ gbɔ o la, amonia ƒoa ƒu ɖe wò lãmenugbagbeviwo me, si hea nɔnɔme aɖe si woyɔna be urea ƒe tsatsam ƒe dɔléle vɛ .

Ale si wòwɔa dɔe nye esi: Ne èɖu nuɖuɖu siwo me protein sɔ gbɔ ɖo la, dɔlékui siwo le wò dɔgbo me gblẽa protein ma me, eye wowɔa amonia wòzua gbeɖuɖɔ. Zi geɖe la, wò aklã trɔa asi le amonia sia ŋu to urea ƒe tsatsam me tsɔ trɔae wòzua urea, si wò ayikuwo ɖena le wò ʋu me be woaɖee le aɖuɖɔ me. Ne OTC mesɔ gbɔ o la, dɔ sia katã gblẽna.

Nukawoe nye nɔnɔme sia ƒomevi veviwo?

Woma OTC ƒe anyimanɔmanɔ ɖe hatsotso etɔ̃ me le ƒe si me dzesiawo dze le nu:

• Vidzĩ ƒe gɔmedzedze: Esiae nye dɔléle si nu sẽ wu. Zi geɖe la, dzesiawo dona le eƒe agbemeŋkeke 30 gbãtɔwo me, si hiã be woawɔ atike na ame kpata.
• Titina: Esia ate ŋu agblẽ nu le ame ɖekaɖeka siwo xɔ tso ɣleti ɖeka va ɖo ƒe 16 ŋu.
• Edzea egɔme megbe: Esia ate ŋu adze ɣesiaɣi le ƒe 16 xɔxɔ vɔ megbe, ɣeaɖewoɣi gɔ̃ hã vaseɖe esime wòxɔ ƒe 60. Zi geɖe la, esiae nye esi mesẽna boo o ne wotsɔe sɔ kple bubuawo.

Amekae le afɔku me wu le OTC ƒe anyimanɔmanɔ ta?

OTC ƒe anyimanɔmanɔ nye nɔnɔme si mebɔ o . Gake eyae nye esi bɔ wu le urea ƒe tsatsam ƒe dɔlélewo katã dome. Numekulawo bu akɔnta be edzea ame 1 le ame 14,000 ɖesiaɖe me va ɖo ame 1 le 80,000 ɖesiaɖe me. Tsɔ kpe ɖe eŋu la, zi geɖe la, nɔnɔmea bɔ ɖe ŋutsuwo me wu eye wòsẽna ɖe edzi.

Nukae nye OTC ƒe anyimanɔmanɔ ƒe dzesiwo?

Dzesiawo toa vovo le ƒe si wòxɔ nu, eye vidzĩ yeyewoe toa kuxi sesẽtɔwo kekeake me. Zi geɖe la, dzesiawo nu sẽna ɖe edzi ne woɖu nuɖuɖu siwo me protein sɔ gbɔ ɖo vɔ.

Dzesiwo le Vidzĩ Yeyewo Ŋu

Ne nɔnɔme sia le vidzĩ yeye ŋu la, àte ŋu ade dzesi nu siwo gbɔna:

• Gbegbe be yemaxɔ nuɖuɖu o alo no nana sesẽ.
• Aɖuɖɔtoe si nɔa anyi ɖaa.
• Dzikudodo si gbɔ eme kple avifafa enuenu.
• Kuviawɔwɔ atraɖii alo ŋusẽ si mebɔ o.
• Alɔ̃madɔmadɔ.
• Hypotonia (lãmekawo ƒe ʋuʋu alo lãmekawo ƒe ʋuʋu ƒe anyimanɔmanɔ).
• Hepatomegaly (aklã si vuvu alo lolo).

Le Nirogi Lanka la, míese alesi wòtena ɖe dzila dzi be wòakpɔ dzesi siawo le vidzĩ yeye ŋu gɔme. Ŋudzɔnɔnɔ ɖe dzesi siawo ŋu le vevie ŋutɔ hafi woate ŋu akpɔ dɔlélea kaba.

Dzesiwo le Ðeviwo ŋu (ɣleti 1 – ƒe 16) .

Ðevi siwo xɔ ƒe sia ate ŋu akpɔ dzesi siwo míeyɔ ɖe etame, tsɔ kpe ɖe:

• Tɔtɔ.
• Delirium alo susumenuwo ƒe nukpɔkpɔ.
• Ataxia (dɔwɔwɔ ɖekae nyuie o alo azɔlizɔzɔ sesẽ).

Dzesiwo le Ame Tsitsiwo Ŋu

Ne ame tsitsiwo va kple dɔléle sia la, woate ŋu akpɔ dzesi siwo míeyɔ va yi tsɔ kpe ɖe:

• Xeɖeɖe.
• Taɖuame si le abe taɖuame ene.
• Dysarthria (nuƒoƒo si me mekɔ o alo nuƒoƒo sesẽ).
• Susumenuwo ƒe susumenuwo.
• Nukpɔkpɔ si me kɔ o alo nukpɔkpɔ ƒe tɔtɔ bubuwo.

Nukatae OTC ƒe anyimanɔmanɔ dzɔna? Nukawoe gbɔ wòtsona?

OTC ƒe anyimanɔmanɔ nye domenyiŋusẽfianu ƒe dɔléle , si tsoa wò DNA ƒe tɔtrɔ gbɔ. Numekulawo de dzesi domenyiŋusẽfianu ƒe tɔtrɔ vovovo siwo ade 400 siwo do ƒome kple nɔnɔme sia. Le nɔnɔme siwo ade 20% me la, ɖewohĩ womate ŋu ade dzesi domenyiŋusẽfianu ƒe tɔtrɔ si koŋ le ete to dodokpɔ siwo wowɔ fifia dzi o.

DNA ƒe tɔtrɔ siawo dzɔna le mɔ vevi eve nu:

• Domenyinu: Ðevi ate ŋu anyi domenyiŋusẽfianu la ƒe dome tso wo dada gbɔ. Le nɔnɔme sia me la, zi geɖe la, ŋutsuwoe xɔa dɔlélea, evɔ nyɔnuwo ya va zua dɔlélawo zi geɖe. Esia nye dɔléleawo ƒe 36% va ɖo 80% lɔƒo le amewo ƒe agbɔsɔsɔ nu.
• De novo (Non-domenyila): Dzɔdzɔmeŋusẽ ƒe tɔtrɔa dzɔna le eɖokui si le ɖevia ƒe tsitsi le vidzidɔ me, ke menye be wòanye domenyinu tso dzila gbɔ o.

OTC ƒe anyimanɔmanɔ si ƒe dome wonyi nye nɔnɔme si do ƒome kple X . Togbɔ be zi geɖe la, nyɔnuwoe nyea agbatsɔlawo hã la, womeɖea asi le wo ŋu o; nyɔnu siwo tsɔa dɔlélea ƒe 10% va ɖo 20% ate ŋu axɔ dzesiwo le woƒe agbemeɣeyiɣi aɖe me.

Nukawoe nye kuxi siwo ate ŋu ado tso OTC ƒe anyimanɔmanɔ me?

Amonia si sɔ gbɔ ɖe wò ʋu me, alo hyperammonemia , nye aɖi na ahɔhɔ̃a. Esia ate ŋu ahe ahɔhɔ̃mekawo ƒe dɔléle si woyɔna be metabolic encephalopathy vɛ . Ne nɔnɔme sia nu sẽ alo edidi la, ate ŋu ahe kuxi sesẽ siwo ate ŋu ade ame ƒe agbe afɔku me vɛ. Ne èsusu be dzesi siawo le ye ŋu la, taflatse ƒo ka na 911 alo yi dɔwɔƒe si te ɖe ŋuwò si kpɔa nudzɔdzɔ kpatawo gbɔ enumake.

• Susu ƒe nuwɔametɔnyenye kple tsitsi ƒe megbetsitsi.
• Ahɔhɔ̃mekawo ƒe dɔlélewo, abe ahɔhɔ̃mekawo ƒe dɔmawɔmawɔ nyuie ene.
• Coma (nɔnɔme si me ame ƒe susu megale dɔ wɔm o ɣeyiɣi didi).
• Le nɔnɔme sesẽwo me la, nublanuitɔe la, ate ŋu ahe ku vɛ.

Wokpɔa kuxi siawo zi geɖe eye zi geɖe la, wosẽna wu ne OTC ƒe anyimanɔmanɔ dze le vidzĩ yeyewo me.

OTC ƒe anyimanɔmanɔ ate ŋu ahe afɔku gãwo hã vɛ le fufɔɣi. Gake ne wokpɔ egbɔ nyuie la, anya wɔ be woalé fu si le lãmesẽ me eye woadzi vi si le lãmesẽ me. Ne wokpɔe be OTC ƒe dɔmawɔmawɔ nyuie le ŋuwò alo wò ƒome ŋutinya si wonya be dɔlélea le ŋuwò la, taflatse ƒo nu kple wò Vidzidziŋutinunyala/Nyɔnuwo ƒe Dɔdala. Woawɔ ɖoɖo ɖe wò beléle ŋu kpe ɖe eŋutinunyala siwo le wò OTC ƒe gbɔdzɔgbɔdzɔa dam ŋu be woakpɔ egbɔ be nu nyuitɔ kekeake si nàte ŋu ado tso eme na wò kple viwòa le Nirogi Lanka.

Aleke wowɔa dea dzesi OTC ƒe anyimanɔmanɔ?

Nudokpɔƒe ƒe numekukuwo koŋ dzie wokpɔa dɔlélea le, vevietɔ ʋu kple aɖuɖɔ dodokpɔwo. Zi geɖe la, DNA dodokpɔ ate ŋu ade dzesi nɔnɔmea hafi woadzi vidzĩa gɔ̃ hã. Gake togbɔ be OTC ƒe anyimanɔmanɔ nye domenyiŋusẽfianu ƒe dɔléle hã la, ɖewohĩ DNA ƒe akpa siwo wozãna ɖaa malé domenyiŋusẽfianu ƒe tɔtrɔ ɖesiaɖe si ate ŋu anɔ anyi o, elabena tɔtrɔ vovovo geɖe li siwo ate ŋu ahe nɔnɔmea vɛ.

Le nutoa me lãmesẽnyawo gbɔ kpɔkpɔ ƒe sewo nu la, woate ŋu ado viwòa kpɔ be OTC mele eŋu o hã abe vidzĩ yeyewo dodokpɔ ƒe ɖoɖo si wowɔna edziedzi ƒe akpa aɖe ene, si dzia mɔnukpɔkpɔ si li be woakpɔe kaba ɖe edzi ŋutɔ.

Le nuto siwo me dodokpɔ ƒe ɖoɖo siwo wowɔna ɖaa mele o me la, nɔnɔme sia nyanya le vidzĩ yeyewo ŋu ate ŋu asesẽ na atikewɔla bibiwo gɔ̃ hã. Zi geɖe la, dzesi siwo dzena le gɔmedzedzea me menya kpɔna dzea sii bɔbɔe o eye woate ŋu asrɔ̃ dɔléle bubu siwo bɔ. Le nɔnɔme sesẽwo me la, aɖi si le amonia me ate ŋu agblẽ nu le ahɔhɔ̃a ŋu si womate ŋu atrɔ o hafi woakpɔ dɔlélea le se nu.

Atike kawoe li na OTC ƒe anyimanɔmanɔ?

Nya nyuiae nye be atikewɔmɔnu nyuiwo li . Dɔdzikpɔlawo ƒe susu nɔa mɔnu vevi geɖe ŋu:

• Amoniaka ƒe agbɔsɔsɔ si le ʋu me dzi ɖeɖe kpɔtɔ: Le nɔnɔme kpatawo me la, wozãa ʋumenugbagbeviɣidɔ tsɔ ɖea amoniaka le ʋua me kabakaba.
• Mɔnu bubuwo ƒe atikewɔwɔ: Atike siwo tsɔa nitrogen ƒua gbe, abe Sodium Phenylacetate kple Sodium Benzoate ene, kpena ɖe wò ŋutilã ŋu wòtrɔa asi le nitrogen ŋu heɖenɛ ɖa to mɔ vovovowo dzi, si xea mɔ na amoniaka si me afɔku le ƒe ƒuƒoƒo.
• Nuɖuɖu ƒe tɔtrɔ: Ele vevie ŋutɔ be nàwɔ ɖoɖo ɖe protein si nèɖuna ŋu nyuie be amonia ƒe agbɔsɔsɔ nanɔ dedie, eye nàtsɔ nuɖuɖumeŋusẽ si tso carbohydrates kple ami siwo naa lãmesẽ me aɖo nɔƒe gbãtɔ.
• Kpekpeɖeŋunana: Àte ŋu abia amino acid kpeɖeŋutɔ veviwo be woatsɔ aɖɔli esiwo bu to protein ɖuɖu dzi ɖeɖe kpɔtɔ vevie me.
• Kpɔkpɔ: Ele vevie be woado ʋu me kpɔ edziedzi be woalé ŋku ɖe amonia ƒe agbɔsɔsɔ ŋu eye woalé afɔku ƒe dzidziɖedzi hafi woagblẽ nu le ame ŋu.

Ne wokpɔe do ŋgɔ na vidzidzi la, woate ŋu adze atikewɔwɔ gɔme le vidzidɔ me. Ne míena atike vidadaa do ŋgɔ teti na vidzidzi la, míate ŋu akpe asi ɖe eŋu be amoniaka ƒe agbɔsɔsɔ si le vidzĩa me nanɔ dedie le edziɣi teti.

Ðe woate ŋu ada OTC ƒe anyimanɔmanɔa?

Ẽ, atike aɖe li si woate ŋu ada: aklã dodo na ame . Ne ŋutilãa tsɔ esi le lãmesẽ me ɖɔ li aklã si ŋu dɔlélea le la, ŋutete sua esi be wòawɔ OTC enzyme si hiã. Le ʋudodo dzidzedzetɔe megbe la, zi geɖe la, dɔnɔwo ate ŋu atrɔ ayi nuɖuɖu si sɔ, si me nunyiame sɔ gbɔ ɖo dzi eye ɖewohĩ womagahiã atike siwo ɖea amonia dzi kpɔtɔna o.

Nublanuitɔe la, aklã dodo na ame ɖe nɔnɔme sia ta mebɔ o. Gakpe ɖe eŋu la, ele be amesiwo woaxɔe nano atike siwo tsia dɔlélenutsiŋutete nu le woƒe agbemeŋkekewo katã me be woaxe mɔ ɖe ŋutinuwo ƒe gbegbe nu. Wò ɖɔkta adzro eme nenye be amedodo na ame nye tiatia nyui aɖe le wò nɔnɔme tɔxɛa nu.

Tsɔ kpe ɖe eŋu la, numekuku siwo le edzi yim le domenyiŋusẽfianu ƒe atikewɔwɔ ŋu na mɔkpɔkpɔ be, le etsɔme la, míate ŋu ada dɔléle sia evɔ mahiã be woawɔ dɔ na mí o.

Agbenɔnɔ kple OTC ƒe anyimanɔmanɔ: Nukae wòle be nàkpɔ mɔ na?

Wò nuteƒekpɔkpɔ le OTC ƒe anyimanɔmanɔ ŋu nɔ te ɖe nɔnɔmea ƒe sesẽ dzi. Zi geɖe la, zi alesi protein ƒe gbɔdzɔgbɔdzɔa nu sẽe la, zi nenemae wò protein ƒe mɔxexeɖedɔa nu asẽe. Le dzɔdzɔme nu la, ame geɖe siwo ŋu dɔléle sia le la dina be yewoaɖu amagbewo, elabena zi geɖe la, edzikpɔkpɔ nɔa bɔbɔe wu. Wò ɖɔkta si le Nirogi Lanka afia mɔ wò le protein agbɔsɔsɔme si nàte ŋu aɖu dedie kple alesi nàlé ŋku ɖe wò ŋgɔyiyi ŋui ŋu.

Le nusianu me la, OTC ƒe anyimanɔmanɔ gbɔ kpɔkpɔ nye ɖokuitsɔtsɔna le agbe me katã. Esi wònye be amonia ƒe agbɔsɔsɔ si dzi ɖe edzi ate ŋu ana nàzu nuwɔametɔ ta la, alesi amoniaka ƒe agbɔsɔsɔ si li ke, si bɔbɔ lae nye nu vevitɔ na wò.

Ne wole ŋku lém ɖe wo ŋu nyuie, wowɔa atike na wo ɣesiaɣi, eye woɖua nuɖuɖu si me protein mele o ta la, OTC ƒe anyimanɔmanɔ nye nɔnɔme si dzi woate ŋu akpɔ nyuie ŋutɔ . Ele vevie be nàlé ŋku ɖe wò amonia ƒe agbɔsɔsɔ ŋu edziedzi be nàxe mɔ ɖe eƒe dzidziɖedzi si me afɔku le nu. Ne wò agbɔsɔsɔ dzi ɖe edzi nyateƒe la, atikewɔlawo ƒe nudede eme kaba ate ŋu ana woagaɖiɖi dedie.

Ɣeyiɣi didi kae OTC ƒe anyimanɔmanɔ nɔa anyi?

OTC deficiency is a congenital condition , si fia be enye nusi wodzi wò kplii eye wònɔa anyi le wò agbemeŋkekewo katã me. Fifia la, aklã dodo na ame koe nye atike si woate ŋu ada.

Nukae nye mɔkpɔkpɔ na amesi ŋu OTC ƒe gbɔdzɔgbɔdzɔ le?

Mɔkpɔkpɔ na amesi ŋu OTC ƒe gbɔdzɔgbɔdzɔ le nɔ te ɖe ƒe si me dzesiawo dze zi gbãtɔ dzi koŋ. Numekuku siwo wowɔ tso ƒe 2020 me ɖee fia be zi geɖe la, ame ɖekaɖeka siwo ƒe dzesiwo dzena le woƒe domedome alo tsitsime la ƒe ŋgɔdonya nyona wu, eye woƒe ku ƒe agbɔsɔsɔme nɔa 8% va ɖo 13%.

Zi geɖe la, vidzĩwoe xɔa nɔnɔmea ƒe nɔnɔme si nu sẽ wu eye wowua wo wu. Gake agbɔsɔsɔ siawo nyo ɖe edzi ŋutɔ ne wotsɔe sɔ kple ƒe bla nane siwo va yi. Ƒe 30 ƒe numekuku aɖe (ƒe 1971–2011) ɖee fia be vidzĩ yeyewo ƒe ku ƒe agbɔsɔsɔme nye 74%, gake numekuku si kplɔe ɖo si ku ɖe ƒe 2001–2013 ŋu ɖee fia be edzi ɖe kpɔtɔ va ɖo 43%. Esia ɖe ŋusẽ nyui si atikewɔwɔ me ŋgɔyiyiwo kpɔna ɖe ame dzi le ɣeyiɣi aɖe megbe la fia kɔte.

Ðe mɔ aɖe li si dzi woato axe mɔ ɖe OTC ƒe anyimanɔmanɔ nua?

Fifia la, mɔ aɖeke meli si dzi woato axe mɔ ɖe OTC ƒe anyimanɔmanɔ ŋutɔ nu o. Ke hã, àte ŋu adi domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo hafi adze ƒome gɔme. Togbɔ be esia mate ŋu axe mɔ ɖe dɔlélea nu o hã la, akpe ɖe ŋuwò nàse alesi wòanya wɔ be nàkae na viwòwo gɔme.

Ɣekaɣie wòle be nàdi beléle kpata?

Ne mia alo viwòa ɖe dzesi siwo fia be amoniaka ƒe agbɔsɔsɔ le ʋu me dzi ɖe edzi la, ele be nàdi atikewɔla kpata alo nàyi dɔwɔƒe si te ɖe ŋuwò le nudzɔdzɔ kpatawo gbɔ kpɔƒe si te ɖe ŋuwò enumake . Zi alesi amoniaka ƒe agbɔsɔsɔ nɔa edzi yim ɣeyiɣi didi la, zi nenemae ahɔhɔ̃a ƒe gbegblẽ tegbee ƒe afɔkua dzina ɖe edzii. Ɣeyiɣi nye nu vevitɔ; mègahe ɖe megbe o.

Nya vevi kawoe wòle be nàbia wò ɖɔkta?

Le wò aɖaŋuɖoɖo xɔxɔ me la, anyo be nàbia nya siwo gbɔna:

• Ðe domenyiŋusẽfianu ƒe tɔtrɔ si wonya gbɔe nye OTC ƒe anyimanɔmanɔ tsoa?
• Ðe wòle be woado nye ƒomea me tɔ bubuwo ƒe DNA kpɔ be OTC mele wo ŋu oa?
• Nukae nye protein agbɔsɔsɔme si wòle be maɖu gbesiagbe?
• Atikewɔwɔ tɔxɛ kawoe wobia tso asinye?
• Ðe nunyiame vevi aɖewo li siwo wòle be manoa?
• Dzesi kple dzesi tɔxɛ kawoe hiã be woakpɔ egbɔ kpata?

Susu mamlɛawo tso Nirogi Lanka gbɔ

Ne èva kpɔe be domenyiŋusẽfianu ƒe nɔnɔme aɖe le ye alo viwòa ŋu le yeƒe agbemeŋkekewo katã me la, ate ŋu anyɔ seselelãme geɖe ɖe ame me. Enye nusi sɔ bliboe be nàse vɔvɔ̃, dzimaɖitsitsi, alo dziɖeleameƒo; wò seselelãmewo sɔ.

Ke hã, taflatse ɖo ŋku edzi be OTC ƒe anyimanɔmanɔ menye wò vodada o ; enye nɔnɔme si tso nusiwo dzi màte ŋu aɖu o gbɔ.

Togbɔ be OTC ƒe anyimanɔmanɔ nye nu sesẽ hã la, ŋgɔyiyi siwo wowɔ le atikewɔwɔ me na be woate ŋu akpɔ edzi wu tsã. Ne wole ŋku lém ɖe ŋuwò ɣesiaɣi eye wowɔ atike na wò nyuie la, àte ŋu anɔ agbe si li ke. Kpeɖodzi siwo le dzidzim ɖe edzi hã li be aklã dodo ate ŋu ana atike si woate ŋu ada. Ne èdo go kuxiwo alo nèhiã kpekpeɖeŋu la, ɖo ŋu ɖe wò atikewɔlawo ƒe ƒuƒoƒoa ŋu. Wole afisia be yewoafia mɔ wò eye yewoana kpekpeɖeŋu si nèhiã le mɔzɔzɔ sia katã me.

Nya veviwo: OTC ƒe anyimanɔmanɔ, Ammonia, Aklã, Urea ƒe tsatsam, Domenyiŋusẽfianu ƒe dɔlélewo, Protein, Ðeviwo ƒe dɔlélewo