Mina míasrɔ̃ nu tso Inborn Errors of Metabolism (IEM) ŋu le nya bɔbɔewo me!

Èbu alesi nu siwo míeɖuna henoa naa ŋusẽ míaƒe ŋutilã hetua míaƒe ŋutilã ɖo ŋu kpɔa? Enye nuwɔna wɔnuku aɖe ŋutɔ, alo? Gake ɣeaɖewoɣi la, vodada suesuesuewo ate ŋu ado mo ɖa le ɖoɖo sia me, si nye nuwɔametɔnyenye, ate ŋu ado mo ɖa tso edziɣi. Emae nye nusi ŋu míele nu ƒom tsoe egbea. Mègatsi dzi o, esia adze abe nyati sesẽ aɖe ene, gake maɖe eme le mɔ bɔbɔe aɖe si gɔme nàte ŋu ase nu.

Nukae nye nusi woyɔna be Inborn Errors of Metabolism (IEM) siawo?

Kpuie ko la, lãmenugbagbeviwo ƒe dɔwɔwɔ nye atike si trɔa nuɖuɖu si míeɖuna wòzua ŋusẽ eye wòɖea gbeɖuɖɔ ɖa. Ele abe dɔwɔƒe sue aɖe si le míaƒe ŋutilã me ene. Be dɔwɔƒe sia nate ŋu awɔ dɔ nyuie la, ele be nusianu si wòhiã la nanɔ esi.

Fifia, Inborn Errors of Metabolism (IEM) , si woyɔna ɣeaɖewoɣi be domenyinyi ƒe lãmenugbagbeviwo ƒe dɔlélewo, nye nɔnɔmewo ƒe ƒuƒoƒo aɖe si me womewɔa atike ƒe dɔwɔwɔ si meyɔ la nyuie o. Ele abe ne mɔ̃ aɖe si le dɔwɔƒe aɖe, alo ame aɖe si le dɔ wɔm tso eŋu, mele dɔ wɔm nyuie o ene. Esia dzɔna elabena womewɔa enzyme aɖewo , siwo nye protein tɔxɛ siwo kpena ɖe atikewɔmɔnu siawo ŋu nyuie o, alo le esi womewɔa dɔ nyuie o ta.

Vodada ƒomevi kawoe li?

Le nyateƒe me la, lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe vodada siwo wodzina ƒomevi alafa geɖe li. Zi geɖe la, wotsɔa enzyme si mele dɔ wɔm nyuie o la ƒe ŋkɔ na dɔléle siawo. Mina míalé ŋku ɖe ƒomevi siwo bɔ wu dometɔ aɖewo ŋu:

• Lysosomal storage disorders: Tsɔe be dɔwɔƒe sue aɖewo le míaƒe ŋutilã siwo wɔa gbeɖuɖɔ ŋudɔ. Ɣeaɖewoɣi la, le dɔléle siwo woyɔna be ``Lysosomal storage disorders'' me la, dɔwɔƒe mawo mewɔa dɔ nyuie o. Emegbe, gbeɖuɖɔ siwo me aɖi le siwo wòle be woaɖe ɖa la ƒoa ƒu ɖe ŋutilãa me. Ðeko wòle abe gbeɖuɖɔ ƒo ƒu ɖe wò aƒe me ne gbeɖuɖɔtsɔʋua meva o ene. Le kpɔɖeŋu me, dɔlélewo abe ``Hurler syndrome,'' ``Gaucher dɔléle,'' kple ``Tay-Sachs dɔléle,'' dze le hatsotso sia me.

• Maple syrup urine disease: Esia nye nɔnɔme si me amino acid, siwo nye proteinwo ƒe xɔtunu veviwo, ƒoa ƒu ɖe ŋutilãa me. Esia ate ŋu agblẽ nu le lãmekawo ŋu eye wòana aɖuɖɔa naʋẽ abe maple-tsi ene. Aleae dɔlélea xɔ ŋkɔe.

• Glycogen storage disease: Esia nye ne ŋutilã mete ŋu dzra sukli (glucose) si le nuɖuɖu si míeɖuna me ɖo nyuie o. Esia ate ŋu ana sukli naɖiɖi le ʋu me.

• Mitochondrial dɔlélewo:Mitochondria nye nu suesuesue siwo kpena ɖe lãmenugbagbevi siwo le míaƒe ŋutilã me ŋu wowɔa ŋusẽ. Le dɔléle siawo me la, mitochondria siawo mewɔa dɔ nyuie o, eyata lãmenugbagbeviawo mete ŋu wɔa ŋusẽ si wohiã o. Esia ate ŋu akpɔ ŋusẽ ɖe ŋutinu vevi geɖe, abe ahɔhɔ̃, lãmeka, aklã, kple ayiku ene ƒe dɔwɔwɔ dzi.

• Peroxisomal disorders: Esia sɔ kple lysosomal storage dɔlélewo. Le afisia la, aɖi siwo gblẽa nu le ame ŋu la ƒoa ƒu ɖe ŋutilãa me.

• Ga ƒe lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxiwo: Ga vovovowo ƒe agbɔsɔsɔ sue aɖe koe le míaƒe ŋutilã me. Gake le dɔléle siawo me la, ga aɖewo ƒoa ƒu ɖe ŋutilã me eye wozua aɖi. Le kpɔɖeŋu me, le Wilson dɔlélea me la, akɔbli ƒoa ƒu wògbɔa eme, eye le ʋumenugbagbeviɣidɔ me la, iron ƒoa ƒu wògbɔa eme.

• Urea cycle disorder: Esia nye ne ŋutilãa mete ŋu ɖea aɖi aɖe si woyɔna be ammonia, si ƒoa ƒu ɖe ʋua me eye wòhea kuxiwo vɛ la ɖa nyuie o.

Amekawoe nɔnɔme siawo gblẽa nu le wu?

Amesiame ate ŋu axɔ vodada siawo siwo wodzina le lãmenugbagbeviwo ƒe dɔwɔwɔ me (IEMs). Esia le alea elabena tɔtrɔ siwo va le míaƒe domenyiŋusẽfianu, alo DNA me gbɔe wotso. Domenyiŋusẽfianu siwo gblẽa nu le IEM ƒomevi ɖesiaɖe ŋu la to vovo. Gake ne dɔléle sia le wò ƒomea me tɔ aɖe ŋu la, ke afɔku si le asiwò be nàxɔ nane si le abe esia ene la lolo vie.

Aleke gbegbee nusiawo bɔe?

Le xexeame godoo la, wobu akɔnta be vidzĩ 2,500 ɖesiaɖe si wodzi dometɔ ɖeka ate ŋu anye esi dzi wodzina ƒe lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe gbɔdzɔgbɔdzɔ sia ƒomevi. Esia fia be esiawo mebɔ nenema gbegbe o.

Aleke lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe dɔléle sia kpɔa ŋusẽ ɖe ŋutilãa dzii?

IEM nɔnɔme siawo koŋ kpɔa ŋusẽ ɖe ŋutete si le mía si be míazã nunyiame siwo gbɔna siwo míekpɔna tso nuɖuɖu siwo míeɖuna kple esiwo míenona me nyuie la dzi:

• Carbohydrates (starch kple sukli) .
• Sukli (glucose) .
• Protein (Protein) ƒe dɔwɔwɔ
• Amiwo

Eyata dɔléle siawo ƒe dzesiwo ate ŋu akpɔ ŋusẽ ɖe ŋutinu vovovo siwo le ŋutilãa me dzi. Woate ŋu akpɔ ŋusẽ ɖe ɖevi ƒe tsitsi, eƒe susu ƒe tsitsi, kple gbesiagbedɔwo wɔwɔ ƒe ŋutete hã dzi .

Nukae nye esia ƒe dzesiwo?

Lãmetsiŋusẽ ƒe dɔmawɔmawɔ nyuie siawo siwo wodzina ƒe dzesiwo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Dɔlélea ƒe sesẽme hã toa vovo tso ame ɖeka gbɔ yi bubu gbɔ. Dzesi siwo bɔ dometɔ aɖewoe nye:

• Tsitsi ƒe megbetsitsi : Esia fia be susu kple ŋutilã ƒe ŋutetewo metsina le mɔ si sɔ na ƒexɔxɔ nu o.
• Kpekpeme dzi ɖeɖe kpɔtɔ alo lolo dzi ɖeɖe kpɔtɔ.
• Mekɔkɔ nyuie o (Tsitsi ƒe kuxiwo).
• Alɔ̃madɔmadɔ : Esia fia nɔnɔme siwo le abe alɔ̃madɔmadɔ ene.
• Nuɖuɖu ƒe dzodzro manyomanyo .
• Kuviatɔ, ɖeɖiteameŋu ɣesiaɣi .
• Ʋeʋẽ siwo mebɔ o siwo dona tso aɖuɖɔ, fifia, alo gbɔgbɔ me .
• Ƒodo ƒe vevesese, ʋuʋudedi.

Ðo ŋku edzi be mègatsɔe be dɔléle aɖe le ye ŋu le esi dzesi siawo dometɔ ɖeka alo eve le ye ŋu ta ko o. Gake ne dzesi siawo gakpɔtɔ li, vevietɔ le ɖevi sue aɖe gome la, ele vevie be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo. Nɔnɔme siawo dometɔ aɖewo ate ŋu ade ame ƒe agbe afɔku me ne womewɔ atike na wo nyuie o.

Nukawoe nye susu siwo tae wòle alea ɖo?

Nusi koŋ gbɔ lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe gbɔdzɔgbɔdzɔ (IEM) siawo tsonae nye domenyiŋusẽfianu ƒe tɔtrɔ . Esia dzɔna le fugboe ƒe nɔnɔme me, si fia be ne vidzĩa le vidzidɔa me, ne lãmenugbagbeviwo ma hewɔ yeyewo.

Domenyiŋusẽfianu siwo le míaƒe ŋutilã me dometɔ aɖewo fiaa mɔ proteinwo be woawɔ atike siwo hiã na lãmenugbagbeviwo ƒe dɔwɔwɔ le míaƒe nuɖuɖu vɔ megbe. Protein tɔxɛ siwo woyɔna be enzymes ye wɔa atike siawo ƒe dɔwɔwɔ.

Fifia, le amesi ŋu IEM nɔnɔme sia le ƒe ŋutilã me la, mɔfiame siwo hiã be woatsɔ awɔ woƒe dɔ nyuie la mexɔa enzyme mawo o. Esia tae dzesi siawo dzena ɖo.

Aleke nèwɔ dea dzesi nusiawo?

Zi geɖe la, ɖɔktawo dea dzesi lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi siawo siwo wodzina hafi wodzia vidzĩa (dodokpɔ do ŋgɔ na vidzidzi) alo le vidzĩ yeyewo dodokpɔ me . Le Sri Lanka la, wodoa vidzĩ yeyewo katã kpɔna be dɔléle siawo dometɔ aɖewo le wo ŋu hã. Le ame aɖewo gome la, dzesiawo ate ŋu adze le wo tsitsi vɔ megbe gɔ̃ hã, eye ɣemaɣie wokpɔa dɔlélea dzea sii.

Dodokpɔ kawoe wole wɔwɔm na esia?

Esi wònye be IEM ƒomevi geɖe li ta la, ehiã be woawɔ dodokpɔ vovovowo hafi woate ŋu anya dɔlélea nyuie. Wo dometɔ aɖewoe nye:

• Lãmetsiŋusẽ dodokpɔ: Esia bia be woaɖe ʋu alo aɖuɖɔ eye woalé ŋku ɖe nɔnɔme siwo le amino acid (siwo nye proteinwo ƒe xɔtunu), ami, kple sukli (sukli) ƒe agbɔsɔsɔ me ŋu. Esia ate ŋu akpe ɖe ŋuwò nànya dɔléle si ƒomevi wòaxɔ.
• Domenyiŋusẽfianu dodokpɔ: Le afisia la, woɖea ʋu alo aɖuɖɔ si woɖe tso nu me eye wodoa wo kpɔna be domenyiŋusẽfianuwo trɔ hã.
• Amniocentesis: Esia nye dodokpɔ si wowɔna le fufɔɣi. Woɖea vidzidɔ me tsi si ƒo xlã vidzĩa le vidzidɔa me ƒe kpɔɖeŋu sue aɖe eye wokpɔa domenyiŋusẽfianu ƒe dɔmawɔmawɔ nyuie hã.
• Glucose dodokpɔ: Wowɔa esia be woatsɔ akpɔ wò ʋumesukli ƒe agbɔsɔsɔ. Wowɔa esia ne dzesiwo abe ɖeɖiteameŋu enuenu, gbɔdzɔgbɔdzɔ, alo lãmetutudɔ ene le ŋuwò.
• Ŋkudodokpɔ: IEM ƒe nɔnɔme aɖewo ate ŋu akpɔ ŋusẽ ɖe nukpɔkpɔ dzi, eyata wokafui be woado ŋku kpɔ.

Nukawoe nye atike siwo wozãna na esia?

Atikewɔwɔ na lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi siwo wodzina la toa vovo le dɔlélea ƒomevi nu. Dɔdamɔnu veviawo dometɔ aɖewoe nye:

• Nuɖuɖu ƒe tɔtrɔ: Esi ŋutilã mete ŋu wɔa nunyiame siwo le nuɖuɖu aɖewo me ŋudɔ nyuie o ta la, nuɖuɖu mawo ɖeɖeɖa le nuɖuɖua me ate ŋu akpe ɖe ame ŋu wòaɖu dzesiawo dzi. Esia ate ŋu anye nusi woawɔ le eƒe agbemeŋkekewo katã me ɣeaɖewoɣi.
• Atikewo nana:Ðewohĩ wò ɖɔkta aŋlɔ atike aɖewo na wò be wòakpe ɖe wò lãmenugbagbeviwo ƒe dɔwɔwɔ ŋu wòawɔ dɔ nyuie. Esiawo ate ŋu anye enzyme ɖɔliɖɔli alo atike bubu siwo wotsɔ ɖɔlia woe.
• Dialysis: Esia nye dɔdamɔnu si ɖea aɖinuwo ɖa le ʋua me. Ate ŋu ahiã le nɔnɔme kpata aɖewo me.
• Ŋutinuwo dodo na ame: Le IEM ƒe dɔléle sesẽ aɖewo me la, le kpɔɖeŋu me, ate ŋu ahiã be woado aklã na ame.

Atike ƒomevi siwo wonana

Atike ƒomevi siwo wonana la toa vovo le dɔlélea ƒomevi nu. Kpɔɖeŋu aɖewoe nye:

• Glucose ƒe ʋeʋẽ lilili
• Insulin `(Insulin)`
• Sodium benzoate alo sodium phenylacetate ƒe atike
• Amino acid ƒe kpeɖeŋutɔ
• Enzyme ɖɔliɖɔli
• Nuɖuɖu siwo wotsɔ kpena ɖe nuɖuɖu ŋu

Nukawoe ate ŋu ado tso eme ne womewɔ atike nɛ o?

Ne womekpɔ lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe gbɔdzɔgbɔdzɔ siawo siwo wodzina gbɔ nyuie o la, ŋutilãa mate ŋu awɔ nuɖuɖu ƒe akpa aɖewo ŋudɔ nyuie o, eye aɖinuwo ate ŋu aƒo ƒu ɖe ʋua me, si ahe nɔnɔme sesẽwo abe:

• Having a fit (Alɔ̃madɔmadɔ) .
• Lãmenugbagbeviwo ƒe dɔmawɔmawɔ nyuie (e.g. aklã, ayiku) .
• Ahɔhɔ̃ ƒe gbegblẽ

Esia tae wòle vevie ŋutɔ be woade dzesi dɔléle siawo kaba ahada wo nyuie.

Aleke woawɔ anɔ agbe kple dzesiawo?

Ne èle agbe kple IEM nɔnɔme siawo la, àte ŋu ase le ɖokuiwò me ɣeaɖewoɣi be ɖeɖi te ye ŋu eye yeƒe lãme gbɔdzɔ. Ne dzesiawo gagblẽ ɖe edzi la, ate ŋu asesẽ be woawɔ gbesiagbedɔwo. Nu vevitɔe nye be nàwɔ ɖe atikewɔwɔ ƒe ɖoɖo si wò ɖɔkta na wò dzi. Ele vevie ŋutɔ be nàɖu nuɖuɖu siwo sɔ na wò ŋutilã eye nàte ŋu atrɔ asi le wo ŋu nyuie ko.

Ɣeaɖewoɣi la, ate ŋu asesẽ be nàlé wò ɖɔkta ƒe nuɖuɖu me ɖe asi, vevietɔ ne enye nuɖuɖu si xea mɔ na wò ŋutɔ. Le nɔnɔme mawo me la, ƒo nu kple wò ɖɔkta alo nuɖuɖuŋutinunyala aɖe be wòakpe ɖe ŋuwò nàtrɔ ɖe nuɖuɖu ƒe ɖoɖo yeye sia ŋu.

Ðe woate ŋu axe mɔ ɖe nusiawo nua?

Le nyateƒe me la, womate ŋu axe mɔ ɖe vidzidzi ƒe gbɔdzɔgbɔdzɔ siawo nu o elabena domenyiŋusẽfianu ƒe tɔtrɔ gbɔe wotso. Gake ne èle ɖoɖo wɔm be yeaɖo ƒome anyi la, àte ŋu aƒo nu kple wò ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple ne ehiã la , domenyiŋusẽfianu dodokpɔ ŋu . Esia akpe ɖe ŋuwò nàse afɔku si le eme be nàdzi vi si ŋu domenyiŋusẽfianu ƒe nɔnɔme sia le la gɔme.

Aleke agbea anɔ le nɔnɔme sia me?

Atike aɖeke meli na lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe dɔléle siawo siwo wodzina (IEM) o . Alesi wò dzesiawo nu sẽe afia wò etsɔme. IEM nɔnɔme aɖewo ate ŋu anye afɔku gã aɖe ne aɖiwo ƒo ƒu ɖe ʋua me si ŋutilãa mate ŋu aɖe ɖa o.

Gake,Ne wokpɔ dɔlélea dze sii kaba, wodae nyuie, eye wowɔ tɔtrɔ siwo hiã le agbenɔnɔ me la, ame akpa gãtɔ ate ŋu anɔ agbe si sɔ, si me dzidzɔ le.

Ɣekaɣie wòle be nàkpɔ ɖɔkta?

Ne wò dzesiwo gagblẽ ɖe edzi togbɔ be èwɔ ɖe atikewɔwɔ ƒe ɖoɖo si wò ɖɔkta kafu dzi hã la, kpɔ egbɔ be yeyi ɖɔkta gbɔ. Ne èfɔ fu la, bia wò ɖɔkta tso dodokpɔ siwo wowɔna do ŋgɔ na vidzidzi kple vidzĩ yeye siwo ate ŋu akpe ɖe ŋuwò nàlé ŋku ɖe vidzidzi ƒe gbɔdzɔgbɔdzɔ siawo ŋu le viwòa ŋu.

Vevietɔ wu: Ne alɔ̃madɔmadɔ le wò alo viwòa ŋu la, yi kɔdzi ƒe xɔ si me wokpɔa dɔnɔwo gbɔ kpata le si te ɖe ŋuwò enumake.

Nya siwo nàbia wò ɖɔkta/ɖɔkta

Ne èkpɔe be domenyiŋusẽfianu ƒe dɔléle sia ƒomevi le ye ŋu alo yeƒe ƒomea me tɔ aɖe la, àte ŋu abia wò ɖɔkta nyawo abe:

• Domenyinu ƒe lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe dɔléle ka ƒomevie le nye/vinye ŋu?
• Aleke agbea anɔ kple dɔléle sia?
• Nukae alɔ nye atikewɔwɔ ƒe ɖoɖoa ɖe eme?
• Kuxi kawo ŋue wòle be matsi dzi ɖo etɔxɛe?
• Aleke esia kpɔa ŋusẽ ɖe nye gbesiagbegbenɔnɔ dzii?
• Ðe kpekpeɖeŋunaha aɖewo li siwo me nàte ŋu ado go ame bubu siwo ŋu dɔléle siwo mebɔ o le abe esia ene lea?

Mlɔeba la, nu ʋɛ aɖewo siwo dzi wòle be woaɖo ŋkui

Enyo, eyata mina míagaɖo ŋku nusiwo ŋu míeƒo nu tsoe siwo ŋu nèsusu be wole vevie wu la dometɔ aɖewo dzi na wò ake.

• Vodada siwo wodzina le lãmenugbagbeviwo ƒe dɔwɔwɔ me (IEM) nye nɔnɔme siwo domenyiŋusẽfianu siwo doa kplamatse nuɖuɖu siwo míeɖuna ƒe tɔtrɔ wòazu ŋusẽ kple gbeɖuɖɔwo ɖeɖeɖa ƒe ɖoɖoa hena vɛ.
• Dɔléle ƒomevi alafa geɖe li abe esia ene, eye wo dometɔ ɖesiaɖe ƒe dzesiwo kple atikewɔwɔ to vovo.
• Dɔlélea didi kaba kple edada nyuie nye nu vevitɔ, elabena esia ate ŋu akpe ɖe ame geɖe ŋu be woanɔ agbe nyuie wu.
• Tɔtrɔ le nuɖuɖu ŋu, atikewo zazã, kple ɣeaɖewoɣi la, atikewɔwɔ tɔxɛ bubuwo ate ŋu akpe ɖe ame ŋu wòaɖu dɔléle siawo dzi.
• Ne ɖikeke alo nyabiase aɖewo le mewò la, mègavɔ̃ be yeaƒo nu kple wò ɖɔkta o.

Mele mɔ kpɔm be nyatakaka sia akpe ɖe ŋuwò. Ðo ŋku edzi be menye wò ɖeka koe o. Ðɔktawo, nuɖuɖuŋutinunyalawo, kple kpekpeɖeŋunahawo li be woakpe ɖe amesiwo le nɔnɔme siawo lém ŋu.

` Lãmetsiŋusẽ ƒe dɔlélewo, domenyiŋusẽfianu ƒe dɔlélewo, enzymes, nuɖuɖumeŋusẽ, ɖeviwo ƒe dɔlélewo, domenyiŋusẽfianu ƒe dodokpɔ, lãmenugbagbeviwo ƒe dɔwɔwɔ