Mí katã míenya be nunyiame siwo míaƒe ŋutilã hiã la tsoa nuɖuɖu siwo míeɖuna me. Azɔ hã, le dɔ sia wɔwɔ me la, míaƒe ŋutilã wɔa nu siwo míedi o, siwo nye aɖi ɣeaɖewoɣi. Eyata, ɖoɖo wɔnuku aɖe ŋutɔ le míaƒe ŋutilã si be wòaɖe aɖi siawo siwo míedi o ɖa eye wòatsɔ nu nyuiawo ayi ŋutilã bliboa me. Gake, nukae dzɔna ne gbɔdzɔgbɔdzɔ aɖe le ‘filter’ ɖoɖo sia me? Ema nye nya vevi siwo ŋu míaƒo nu tsoe egbea la dometɔ ɖeka.
Nukae nye Urea ƒe Tsitrenɔnɔ? Mina míase egɔme bɔbɔe ŋutɔ!
Bu urea ƒe tsatsam be enye nusi ɖea aɖinuwo ɖa le míaƒe ŋutilã me. Ekpena ɖe mía ŋu míeɖea nu siwo gblẽa nu le ame ŋu ɖa le míaƒe ŋutilã me eye wòtsɔa nu siwo ɖea vi la yia ŋutilã bliboa me.
Nuwɔna sia dzea egɔme ne míeɖu nu vɔ. Protein siwo le nuɖuɖu siwo míeɖuna me la mãna le míaƒe ŋutilã me zua amino acid . Amino acid siawoe nye proteinwo ƒe akpa veviwo. Abe alesi wòhiã be woatsɔ anyikpewo atu xɔ ene la, amino acid siawo hiã vevie na lãmekawo tutuɖo, nunyiamewo tsɔtsɔ yi teƒe bubuwo, kple ŋutinuwo ƒe dɔwɔwɔ nyuie.
Fifia, ne woɖu protein sia la, ya si woyɔna be amonia dona abe gbeɖuɖɔ ene. Aɖi sia nye aɖi na míaƒe ŋutilã ŋutɔ . Eyata, be míaɖe aɖi sia ɖa la, enzyme siwo le míaƒe ŋutilã me - si nye protein tɔxɛ siwo wɔa atikewo ƒe dɔwɔwɔ - trɔa amonia sia wòzua nusi megblẽa nu le ame ŋu o si woyɔna be urea le aklã me. Amino acid bubu geɖewo le urea sia me kpe ɖe ammonia ŋu:
- Arginine si woyɔna be arginine
- Ornithine ƒe atike
- Citrulline ƒe atike
Emegbe, enzyme siawo tsɔa urea toa ʋua me yia ayikuawo me. Afɔɖeɖe mamlɛtɔ le urea ƒe tsatsam mee nye be míaɖe urea sia ɖa le míaƒe aɖuɖɔ me. Aleae urea ƒe tsatsam wɔa dɔe, le nya bɔbɔewo me.
Eyata nukae nye urea ƒe tsatsam ƒe dɔléle?
Urea Cycle Disorder (UCD) nye nɔnɔme siwo me dɔwɔwɔ si tsɔa urea yia ŋutilã bliboa me, abe alesi míeƒo nu tsoe va yi ene, mewɔa dɔ nyuie o. Zi geɖe la , protein alo enzyme si hiã na dɔ ma ƒe anyimanɔmanɔ alo eƒe anyimanɔmanɔ gbɔe esia tsona.
Esia nye domenyiŋusẽfianu ƒe nɔnɔme , si fia be enye nane si nɔa anyi tso esime wodzii. Ðɔktawo yɔe be Vodada si Wodzina le Lãmetsiŋusẽ ƒe Dɔwɔnawo Me . Esia nana amonia si me aɖi le la ƒoa ƒu ɖe míaƒe ʋu me. Woyɔa esia be Hyperammonemia . Nɔnɔme sia kpɔa ŋusẽ gbegblẽ ɖe míaƒe ŋutilã dzi ŋutɔ, vevietɔ ahɔhɔ̃ kple ŋutinu bubuwo .
Ðe urea ƒe tsatsam ƒe dɔléle ƒomevi aɖewo lia?
Ẽ, urea ƒe tsatsam ƒe dɔléle enyi ye wonya. Wo dometɔ ɖesiaɖe tso enzyme alo protein aɖe koŋ si hiã na urea ƒe tsatsam ƒe anyimanɔmanɔ gbɔ:
- N-acetylglutamate synthase (NAGS) ƒe anyimanɔmanɔ
- Carbamoylphosphate synthetase I (CPS1) ƒe anyimanɔmanɔ
- Ornithine transcarbamylase (OTC) ƒe anyimanɔmanɔ
- Argininosuccinate synthase 1 (ASS1) ƒe anyimanɔmanɔ alo Citrullinemia ƒomevi I
- Citrin ƒe anyimanɔmanɔ alo Citrullinemia ƒomevi II
- Argininosuccinic lyase (ASL) ƒe anyimanɔmanɔ
- Arginase (ARG) ƒe anyimanɔmanɔ
- Ornithine translocase ƒe anyimanɔmanɔ
Togbɔ be esia aɖi dzɔdzɔmeŋutinunya vie hã la, nusi nusiawo dometɔ ɖesiaɖe fia enye be kuxi aɖe le afɔɖeɖe aɖe koŋ me le urea ƒe tsatsam me.
Amekawoe ate ŋu axɔ nɔnɔme sia?
Esia nye domenyiŋusẽfianu ƒe nɔnɔme si ate ŋu agblẽ nu le ame sia ame ŋu. Woate ŋu atsɔ Universal Newborn Screening Blood Tests, si wowɔna le ŋkeke ʋɛ aɖewo ko me tso esime wodzi vi la akpɔ vidzĩ yeyewo. Gake ɣeaɖewoɣi la, dzesiawo dzena le eƒe tsitsime. Ne edzɔ alea la, woate ŋu akpɔ dɔlélea le ame tsitsiwo hã ŋu.
Ðe esia nye nusi dzɔ tso dzidzimewo mea?
Ẽ, urea ƒe tsatsam ƒe anyimanɔmanɔ nye nɔnɔme si ƒe dome wonyi . Zi geɖe la, hafi nàxɔ nɔnɔme sia la, ele be nànyi domenyiŋusẽfianu ƒe tɔtrɔ aɖe ƒe dome tso dawò kple fofowò siaa gbɔ. Woyɔa esia be autosomal recessive transmission. Wotsɔa ƒomevi aɖewo naa viwòwo le fufɔfɔ megbe, eye wodo ƒome kple gbɔdɔdɔ ƒe domenyiŋusẽfianu. Woyɔa esia be X-linked transmission.
Aleke gbegbee nɔnɔme sia bɔe?
Le United States la, wobu akɔnta be nɔnɔme sia dzea ame ɖeka le ame 35,000 ɖesiaɖe me. Togbɔ be akɔntabubu siwo sɔ pɛpɛpɛ mele Sri Lanka o hã la, wobu esia be enye nɔnɔme si mebɔ o.
Nukae nye urea ƒe tsatsam ƒe anyimanɔmanɔ ƒe dzesiwo?
Zi geɖe la, nɔnɔme sia ƒe dzesi gbãtɔwo dzena le vidzidzi me. Ke hã, dzesi siawo ate ŋu adze le ƒe ɖesiaɖe me. Kpɔe ɖa be dzesi siawo ɖi nusi nènya nyuie hã:
- Alɔ̃dɔdɔ, ɖeɖiteameŋu akpa (Lethargy) .
- Vidzĩwo ƒe avifafa enuenu kple dzimaɖitsitsi (Fussiness in babies) .
- Aɖuɖɔtoe alo ʋuʋudedi
- Mate ŋu aɖu nu alo aɖu nu o
- Gbɔgbɔ kabakaba akpa alo blewu akpa
- Tɔtɔ, susu ƒe bubu
Dzesi siawo tsoa amoniaka ƒe agbɔsɔsɔ si le ʋu me ƒe dzidziɖedzi gbɔ (Hyperammonemia). Dzesi siawo ate ŋu atso esiwo nu mesẽ o dzi va ɖo esiwo nu sẽ dzi . Àte ŋu akpɔ nusiwo le abe:
- Kuxi siwo le susu ƒe tsitsi kple susu ƒe kuxiwo ŋu
- Nuwɔna ƒe tɔtrɔ
- Tsitsi ƒe megbetsitsi - Esia fia be ɖevia ƒe tsitsi mesɔ ɖe woƒe ƒexɔxɔ nu o.
- Lãmetsiwo ƒe ƒuƒoƒo ɖe ahɔhɔ̃a ŋu (Cerebral Edema) .
- Lãmetsiwo ƒe sesẽ, ʋuʋu (Spasticity) .
- Aɖuɖɔtoe ƒe nɔnɔmewo, alɔ̃madɔmadɔ
- Nɔnɔme si me ame ƒe susu mele o, si nye coma
Vevietɔ: Dzesi siwo gblẽa nu le ahɔhɔ̃a ŋu ate ŋu ade ame ƒe agbe afɔku me, eyata ele vevie be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo enumake ne dzesi siawo le ŋuwò.
Nuka tae wòle alea ɖo?
Abe alesi míegblɔe va yi ene la, domenyiŋusẽfianu ƒe tɔtrɔ gbɔe urea ƒe tsatsam ƒe anyimanɔmanɔ tsona . Domenyiŋusẽfianu ƒe tɔtrɔ vovovo gbɔe ƒomevi siwo ŋu míeƒo nu tsoe va yi la dometɔ ɖesiaɖe tsona:
- N-acetylglutamate synthase ƒe anyimanɔmanɔ: tɔtrɔ le NAGS domenyiŋusẽfianu me.
- Carbamoylphosphate synthetase I ƒe anyimanɔmanɔ: tɔtrɔ si va le CPS1 domenyiŋusẽfianu me.
- Ornithine transcarbamylase ƒe anyimanɔmanɔ: tɔtrɔ le OTC domenyiŋusẽfianu me.
- Argininosuccinate synthase 1 ƒe anyimanɔmanɔ: tɔtrɔ le ASS1 domenyiŋusẽfianu me.
- Citrin ƒe anyimanɔmanɔ: Dzɔdzɔmeŋusẽ ƒe tɔtrɔ le SLC25A13 domenyiŋusẽfianu me.
- Argininosuccinic lyase ƒe anyimanɔmanɔ: tɔtrɔ le ASL domenyiŋusẽfianu me.
- Arginase ƒe anyimanɔmanɔ: Dzɔdzɔmeŋusẽ ƒe tɔtrɔ le ARG domenyiŋusẽfianu me.
- Ornithine translocase ƒe anyimanɔmanɔ: tɔtrɔ le SLC25A15 domenyiŋusẽfianu me.
Domenyiŋusẽfianu siawoe wɔa protein kple enzyme siwo hiã be woatsɔ urea ayi ŋutilã bliboa me. Ne domenyiŋusẽfianu ƒe tɔtrɔ aɖe dzɔ la, ŋutilãa mewɔa protein alo enzyme siawo wòsɔa gbɔ o. Emegbe, ŋutilãa mete ŋu ɖea aɖi si nye amonia, si ƒoa ƒu ɖe ʋua me eye wòhea dzesiwo vɛ la ɖa o.
Aleke wokpɔa dɔléle sia dzea sii?
Wò ɖɔkta abia wò dzesiwo gbã, ado wò ŋutilã kpɔ, eye wòaŋlɔ wò atikewɔwɔ ŋutinya blibo. Emegbe, woate ŋu aɖe gbe be woado ʋu alo aɖuɖɔ kpɔ atsɔ aɖo kpe dɔlélea dzi.
Dodokpɔ kawoe wole wɔwɔm na esia?
- Amino acid ƒe nɔnɔme alo numekuku: Wò ʋu alo aɖuɖɔ ƒe kpɔɖeŋu aɖe dzidzea amino acid ƒe agbɔsɔsɔ le wò ŋutilã me.
- Aklãdɔléle: Woɖea aklã ƒe akpa sue aɖe ŋutɔ hedonɛ kpɔ le nusuekpɔmɔ̃ me be woakpɔe ɖa be enzyme aɖewo li siwo do ƒome kple nɔnɔme sia kple alesi wowɔa dɔe hã.
- Domenyiŋusẽfianu Dodokpɔ: Woɖea ʋu tsɔ léa ŋku ɖe domenyiŋusẽfianu ƒe tɔtrɔ siwo ate ŋu anɔ wò dzesiwo hem vɛ ŋu.
Aleke wowɔa nu ɖe esia ŋui?
Taɖodzinu vevitɔ si le urea ƒe tsatsam ƒe dɔlélewo dada ŋue nye be woaɖe amoniaka ƒe agbɔsɔsɔ si le ʋua me dzi akpɔtɔ. Woate ŋu awɔ esia to:
- Nuɖuɖu si me protein mesɔ gbɔ ɖo o ɖuɖu.
- Dialysis: Dɔwɔwɔ si wozãna tsɔ ɖea aɖinuwo ɖa le ʋua me. Wogayɔa esia be ʋumenugbagbeviɣidɔ .
- Atikewo zazã: Atikewo abe Sodium Phenylacetate kple Sodium Benzoate (e.g. Ammonul® ) kpena ɖe ame ŋu be woaɖe ammonia ɖa le ʋua me.
- Amino Acid Kpekpeɖeŋunuwo Nono: Kpekpeɖeŋunanuwo abe Arginine alo Citrulline ene kpena ɖe ŋutilãa ŋu wòwua urea ƒe tsatsam nu.
Le hyperammonemia ƒe nɔnɔme siwo nu sẽ ŋutɔ me la, ate ŋu ahiã be woado aklã na ame .
Hafi nàdze atikewɔwɔ gɔme la, ƒo nu tso atike yeyewo kple dɔdamɔnu yeyewo ƒe nugbegblẽ le ame ŋu na wò ɖɔkta. Azɔ hã, gblɔ atike alo kpeɖeŋutɔ bubu ɖesiaɖe si nèzãna fifia na wò ɖɔkta. Esia ate ŋu akpe ɖe ŋuwò nàƒo asa na nugbegblẽ le ame ŋu si mèdi o.
Ne urea ƒe tsatsam ƒe dɔléle aɖe le ŋuwò la, nuɖuɖu kawoe wòle be nàƒo asa na?
Nuɖuɖu si me protein mesɔ gbɔ ɖo o ye nye mɔ nyuitɔ si dzi woato akpɔ nɔnɔme sia gbɔ. Esia le alea elabena ne protein si le nuɖuɖu si míeɖuna me gbã la, amino acidwo dzɔna, eye emegbe amonia dona. Ame si ŋu urea ƒe tsatsam ƒe dɔléle le mate ŋu aɖe amonia sia ɖa le dzɔdzɔme nu o. Eyata nuɖuɖu si me protein mesɔ gbɔ ɖo o ɖuɖu ate ŋu aɖe afɔku si le amonia ƒe ƒoƒo ɖe ʋua me dzi akpɔtɔ.
Nuɖuɖu vevi siwo me protein sɔ gbɔ ɖo siwo wòle be nàɖo seɖoƒe na le wò nuɖuɖu me dometɔ aɖewoe nye esi:
- Tɔmelã
- Koklo
- Aziwo
- Nyilã
- Gbe ƒomeviwo
- Tofu alo nuɖuɖu siwo me soya le
Gake esi wònye be protein le vevie na míaƒe ŋutilã ta la, ne míetsoe keŋkeŋ la, ate ŋu agblẽ nu le ame ŋu, abe tsitsi ƒe dɔmawɔmawɔ nyuie ene. Eyata wò ɖɔkta ate ŋu aɖo wò ɖe nuɖuɖuŋutinunyala alo nuɖuɖuŋutinunyala aɖe gbɔ . Woate ŋu akpe ɖe ŋuwò nàɖu protein agbɔsɔsɔme si nèɖuna dzi. Ɣeaɖewoɣi la, wò ɖɔkta ate ŋu aɖo aɖaŋu hã be nàno vitamin, mineral, alo amino acid kpeɖeŋutɔ be wòakpe ɖe ŋuwò nàkpɔ nunyiame ƒe gbɔdzɔgbɔdzɔ si protein ƒe mɔxexeɖedɔa hena vɛ la teƒe.
Ðe woate ŋu ana no vidzĩ si wodzi yeyee ne dɔléle sia le eŋua?
Viwòa xɔa protein tso no me. Togbɔ be àte ŋu ana no hã la, zi geɖe la, wò ɖɔkta alé ŋku ɖe alesi wògblẽa nu le viwòa ŋui ŋu. Ne ehiã be nàɖe protein si viwòa ɖuna dzi akpɔtɔ la, wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàna vidzĩ ƒe notsi tɔxɛ aɖe viwòa ɖe no me notsi teƒe.
Ðe woate ŋu axe mɔ ɖe nɔnɔme sia nua?
Esia nye domenyiŋusẽfianu ƒe nɔnɔme eye womate ŋu axe mɔ ɖe enu o. Ne èle ɖoɖo wɔm be yeafɔ fu eye nèdi be yeanya afɔku si le vi si ŋu domenyiŋusẽfianu ƒe dɔléle aɖe le dzidzi me la, ƒo nu tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo na wò ɖɔkta ŋu .
Mɔkpɔkpɔ ka ƒomevie ate ŋu anɔ amesi ŋu urea ƒe tsatsam ƒe dɔléle le?
Ne wò ɖɔkta nya kpɔ dɔléle sia ko la, adze atikewɔwɔ gɔme be wòaɖe amoniaka si le ʋua me dzi akpɔtɔ. Le vidzĩ yeyewo gome la, woadze atikewɔwɔ gɔme le wo dzidzi megbe teti be woaxe mɔ ɖe kuxiwo nu. Ne wonya dze atikewɔwɔ gɔme ko la, ɖɔktaa alé ŋku ɖe amonia ƒe agbɔsɔsɔ si le ʋu me ŋu vaseɖe esime wòatrɔ ayi agbɔsɔsɔ si le dedie me.
Nɔnɔme sia bia be woalé ŋku ɖe eŋu le eƒe agbemeŋkekewo katã me eye woaɖu nuɖuɖu tɔxɛ si me protein mesɔ gbɔ ɖo o . Protein ɖuɖu fũ ate ŋu ana dzesiawo nagatrɔ ava.
Ne hyperammonemia va nu sẽ la, ate ŋu ana ahɔhɔ̃a nagblẽ si womate ŋu atrɔ o, ame natsi alɔ̃ me, alo aku gɔ̃ hã. Eyata ƒo nu kple wò ɖɔkta tso alesi nàkpɔ wò nɔnɔmea alo viwòa ƒe nɔnɔmea gbɔe ŋu be nàƒo asa na kuxi siawo siwo ate ŋu ade wò agbe afɔku me.
Nukae nye ŋgɔdonya si wogblɔ ɖi na hayahaya le nɔnɔme sia me?
Wò nukpɔsusu nɔ te ɖe alesi wò dzesiawo nu sẽe dzi. Ne wokpɔ dɔlélea dze sii kaba, wodae, eye wokpɔ egbɔ le wò agbemeŋkekewo katã me la, wò agbenɔƒe ate ŋu asɔ. Gake ne womewɔ atike nɛ o alo womekpɔe dze sii o la, ate ŋu awu ame.
Ɣekaɣie wòle be makpɔ ɖɔkta?
Ne nɔnɔme sia ƒe dzesiwo le ŋuwò, vevietɔ ne ɖeɖi te ŋuwò ŋutɔ alo màte ŋu aɖu nu o , yi ɖɔkta gbɔ.
Ne viwòa le tsitsim la, ele vevie be nàlé ŋku ɖe eŋu akpɔe ɖa be ele eƒe tsitsi ƒe nu veviwo gbɔ ɖom hã . Eyae nye be ne ele nu siwo sɔ ɖe ƒe si wòxɔ nu wɔm. Ne menye nenema o la, yi ɖɔkta gbɔ.
Ne alɔ̃madɔmadɔ le wò alo viwòa ŋu alo gbɔgbɔ sesẽ nɛ la, yi kɔdzi ƒe xɔ si me wokpɔa dɔnɔwo gbɔ kpata le enumake.
Nya kawoe wòle be mabia nye ɖɔkta?
- Aleke mawɔ akpɔ vinye ƒe nɔnɔmea gbɔe?
- Ðe wòle be makpɔ nuɖuɖuŋutinunyala aɖea?
- Nukawoe nye atikewɔwɔa ƒe nugbegblẽ le ame ŋu?
- Nuɖuɖu kawoe wòle be maɖe ɖa?
Enye nusi sɔ be nàtsi dzimaɖi ne èva nya be domenyiŋusẽfianu ƒe dɔléle sia si mebɔ o le ye alo viwòa ŋu. Wò ɖɔkta ate ŋu akpe ɖe ŋuwò nàkpɔ dɔlélea gbɔ. Ne èɖu nuɖuɖu si me protein mesɔ gbɔ ɖo o la, àte ŋu aɖe alesi dɔlélea kpɔa ŋusẽ ɖe wò ŋutilã dzii dzi akpɔtɔ. Esia ate ŋu akpe ɖe ŋuwò nàɖe dzesiawo dzi akpɔtɔ eye wòakpe ɖe ŋuwò nàse le ɖokuiwò me be yeƒe lãme sẽ. Ne ɖeɖi tea ŋuwò ɣesiaɣi, nuɖuɖu sesẽna na wò, alo tɔtrɔ siwo mebɔ o le wò nuwɔna me la, kpɔ egbɔ be yeyi ɖɔkta gbɔ.
Nu vevi siwo dzi wòle be woaɖo ŋkui (Take-Home Message) .
Enyo, eyata míeƒo nu geɖe tso Urea Cycle Disorder ŋu. Kpuie ko la, nu ʋɛ aɖewo siwo wòle be wòanɔ susu me na wòe nye esi:
- Esia nye domenyiŋusẽfianu ƒe nɔnɔme: efia be enye nane si wodzi wò kplii. Nusi dzɔna le afisia enye be míaƒe ŋutilã mete ŋu ɖea aɖi si woyɔna be amonia ɖa nyuie o.
- Ele vevie ŋutɔ be nàde dzesii kaba:Vevietɔ na vidzĩ siwo wodzi yeyee. Ne ède dzesi dɔlélea ƒe dzesiwo la, di atikewɔlawo ƒe aɖaŋuɖoɖo enumake.
- Atikewɔwɔ aɖewo li: Nu vevitɔe nye be woakpɔ amonia ƒe agbɔsɔsɔ si le ʋua me dzi. Woate ŋu awɔ esia to nuɖuɖu si me protein mesɔ gbɔ ɖo o, atikewo, kple atike bubuwo zazã me.
- Ehiã be woakpɔ edzi le agbe me katã: Ne wokpɔ edzi nyuie la, ame akpa gãtɔ ate ŋu anɔ agbe si sɔ.
- Wɔ ɖe atikewɔlawo ƒe aɖaŋuɖoɖowo dzi: Ele vevie ŋutɔ na wò lãmesẽ be nàwɔ ɖe aɖaŋuɖoɖo siwo wò ɖɔkta kple nuɖuɖuŋutinunyala na dzi pɛpɛpɛ.
Mègatsi dzodzodzoe o. Nu vevitɔ kekeakee nye be nànya nu tso nɔnɔme sia ŋu eye nàxɔ atikewɔlawo ƒe kpekpeɖeŋu nyuitɔ. Ne nyabiase bubu aɖewo gale asiwò la, mègavɔ̃ be yeaƒo nu kple wò ɖɔkta o.
` Urea ƒe tsatsam, ammonia, domenyiŋusẽfianu ƒe dɔlélewo, protein ƒe asitɔtrɔ, hyperammonemia, ɖeviwo ƒe dɔlélewo, lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxiwo
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