Ðe viwòa ʋẽna abe maple-tsi enea? Mina míasrɔ̃ nu tso dɔléle sia si me afɔku le (Maple Syrup Urine Disease) ŋu .

Ðe viwò yeyea ƒe ŋutilã alo aɖuɖɔ ʋẽna lilili nukutɔe abe maple-tsi enea? Ðewohĩ àsusu be esɔ. Gake ate ŋu anye nɔnɔme sesẽ aɖe si dzi mele be woaŋe aɖaba aƒui gbeɖe o eye wòhiã be woakpɔ egbɔ enumake ƒe dzesi. Woyɔa nɔnɔme sia be maple syrup urine disease, alo MSUD kpuie. Egbea, míaƒo nu tso eŋu le mɔ bɔbɔe aɖe si gɔme sese le bɔbɔe nu.

Nuka tututue nye maple syrup urine disease (MSUD)?

Kpuie ko la, Maple Syrup Urine Disease (MSUD) nye domenyiŋusẽfianu ƒe dɔléle si nɔa anyi le vidzidzi me, nɔa anyi le eƒe agbemeŋkekewo katã me, eye ate ŋu ade ame ƒe agbe afɔku me ne womedae nyuie o. Enye lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe dɔléle. Lãmetsiŋusẽ ƒe dɔléle aɖe ate ŋu aɖi nu sesẽ na wò. Gake ele bɔbɔe ŋutɔ. Efia be kuxi aɖe le alesi míaƒe ŋutilã trɔa nuɖuɖu si míeɖuna wòzua ŋusẽ me.

Le MSUD me la, míaƒe ŋutilã mete ŋu gbãa amino acid aɖewo, siwo nye protein ƒe xɔtunuwo, nyuie hetrɔa wo wozua ŋusẽ o. Kuxi sia dzɔna ɖe amino acid etɔ̃ koŋ dzi:

• Leucine ƒe dɔwɔwɔ
• Isoleucine ƒe atike
• Valine ƒe ŋkɔ

Le amesiwo wodzi kple MSUD gome la, amino acid etɔ̃ siawo megbãna nyuie le ŋutilã me o, eyata woƒoa ƒu ɖe ŋutilã me va ɖoa aɖi ƒe agbɔsɔsɔ. Aɖi ƒe nɔnɔme siae nye dɔlélea ƒe dzesi vevitɔ, si nye maple-tsi alo sukli si wotɔ dzoe ƒe ʋeʋẽ le aɖuɖɔ , tomeka, kple fifia me.

Nukawoe nye MSUD ƒomevi veviwo?

Woate ŋu ama MSUD ɖe hatsotso vevi ene me. Menye ƒomeviwo katãe sɔ o. Wo dometɔ aɖewo nu sẽna ŋutɔ, evɔ bubuwo ya mesẽna vie o.

Ðe dɔléle sia bɔa?

Ao, MSUD nye dɔléle si mebɔ kura o . Le xexea me godoo la, vidzĩ 185,000 siwo wodzi la dometɔ ɖeka koe wòdzena.

Gake dɔléle sia bɔ ɖe to aɖewo me wu. Esia bɔ ɖe amesiwo tso ƒome ɖeka me alo dzidzime ɖeka me, si nye amesiwo ɖea ƒometɔ kplikplikpliwo dome koŋ. Esia le alea elabena domenyiŋusẽfianu si hea dɔléle sia vɛ la bɔ ɖe nuto mawo me wu.

Nukawoe nye MSUD ƒe dzesiwo? Aleke woawɔ ade dzesi nɔnɔme kpata aɖe?

Ele vevie ŋutɔ be nànya dzesiawo elabena ekpena ɖe ame ŋu be woadze atikewɔwɔ gɔme kaba.

Kpɔe ɖa le susu me be vidada aɖe si si vidzĩ si wodzi yeyee le si dea dzesi ʋeʋẽ wɔnuku aɖe si vivina ne ele eƒe vidzĩ ƒe aklala ɖɔlim alo le atuu wɔm nɛ. Gbã la, ɖewohĩ màlé to ɖe eŋu o. Gake le ŋkeke eve alo etɔ̃ megbe la, vidzĩa mete ŋu noa notsi gɔ̃ hã o, efaa avi ɣesiaɣi, eye wòdzena abe ɖe wòle kuvia wɔm ene. Esiae nye ɣeyiɣi si me wòle be nàbui kaba be esia mesɔ o.

Ne womekpɔ dɔléle sia gbɔ o la, ate ŋu ava zu lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi, si nye nɔnɔme kpata si me afɔku le ŋutɔ.

Le ɖeviwo kple ame tsitsi siwo ŋu wokpɔ MSUD le gɔ̃ hã gome la, nane abe dɔlékui, afɔku, alo nuteɖeamedzi sesẽ aɖe ate ŋu ahe lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi sia ƒomevi vɛ. Eyata ele vevie be nànɔ ŋudzɔ ɖe esia ŋu ɣesiaɣi.

Nukatae dɔléle sia dzɔna?

Domenyiŋusẽfianu ƒe tɔtrɔ , si ƒe dome wonyi tso dzilawo gbɔ na ɖeviwo gbɔe MSUD tsona.

Kpuie ko la, míaƒe ŋutilã hiã enzyme ƒomevi tɔxɛ aɖe be wòate ŋu agbã amino acid siwo ŋu míeƒo nu tsoe va yi: leucine, isoleucine, kple valine. Míaƒe domenyiŋusẽfianuwo fiaa mɔ mí be míawɔ enzyme siawo.

Ame si ŋu MSUD le la ƒe domenyiŋusẽfianu ƒe tɔtrɔ, alo nusi gblẽ le domenyiŋusẽfianu siawo ŋu si naa mɔfiamewo. Esia nana be:

• Ðewohĩ womawɔ enzyme si sɔ la kura le ŋutilãa me o .
• Alo, ɖewohĩ womate ŋu awɔ enzyme siwo sɔ gbɔ o .
• Ɣeaɖewoɣi la, togbɔ be wowɔa enzymewo hã la, womate ŋu awɔ dɔ nyuie o .

Nuka kee ɖanye susua o, nusi dzɔna mlɔebae nye be amino acid etɔ̃ mawo ƒoa ƒu ɖe ŋutilãa me eye woɖoa aɖi ƒe agbɔsɔsɔ gbɔ.

Aleke wonyi dɔléle sia ƒe domee?

Wonyia esia ƒe dome le autosomal recessive pattern me . Esia ɖi nya sesẽ aɖe, alo? Mina míana wòanɔ bɔbɔe.

Hafi ɖevi nate ŋu axɔ dɔléle sia la, ele be vidadaa kple fofoa siaa nanye domenyiŋusẽfianu si gblẽ la tsɔlawo . Dɔlékui tsɔla fia be domenyiŋusẽfianu ƒe kɔpi nyui kple kɔpi si gblẽ siaa le amea ƒe ŋutilã me. Dɔléle sia mexɔa dɔlékuiwutikewo o. Esia le alea elabena domenyiŋusẽfianu ƒe kɔpi nyui la wɔa enzyme si hiã.

Gake ne dzila evea siaa nye amesiwo tsɔa domenyiŋusẽfianu la, ɖevia ate ŋu anyi domenyiŋusẽfianu si gblẽ la ƒe dome tso vidadaa kple fofoa siaa gbɔ. Ne domenyiŋusẽfianu evea siaa siwo gblẽ la nyi dome ko hafi ɖevia axɔ MSUD.

Nukawoe nye kuxi siwo ate ŋu ado tso dɔléle sia me?

Aɖi siwo ƒoa ƒu ɖe ŋutilã me ate ŋu agblẽ nu le míaƒe ŋutinu geɖe ŋu. Ne womewɔ atike nɛ o alo womekpɔ egbɔ nyuie o la, kuxi siwo gbɔna ate ŋu ado mo ɖa:

• Ahɔhɔ̃ ƒe gbegblẽ , lãmekawo ƒe dɔwɔwɔ ƒe kuxiwo, kple tsitsi ƒe megbetsitsi.
• Susu ƒe lãmesẽnyawo abe susu ƒe dɔmawɔmawɔ nyuie ƒe dɔléle (ADHD), dzimaɖitsitsi, kple blanuiléle ene ƒe afɔku si dzina ɖe edzi.
• Ƒu ƒe lolome dzi ɖe kpɔtɔ ( osteoporosis ), si ate ŋu ana ƒuwo nagbã bɔbɔe.
• Dɔgbo ƒe dɔdzẽ ( pancreatitis ), vevietɔ ne lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi aɖe do mo ɖa.
• Taɖuame si nɔa anyi didi si tsoa taɖua ƒe nyaƒoɖeamenu si dzi ɖe edzi gbɔ.
• Ʋuʋu ƒe kuxiwo abe ʋuʋudedi kple lãmekawo ƒe tete si dzi womeɖu o ene.
• Coma kple ku gɔ̃ hã ate ŋu adzɔ le dɔlékuiwo xɔxɔ, nuteɖeamedzi, alo nuɖuɖu gbegblẽ ta.

Aleke woawɔ anya dɔlélea? (Dɔléle ƒe dzesi) .

Zi geɖe la, wokpɔa MSUD si wozãna tsã le vidzĩ yeyewo dodokpɔ me, si nye ʋudodokpɔ.

Tsɔ kpe ɖe eŋu la, woate ŋu awɔ dodokpɔwo le fufɔɣi be woakpɔe ɖa be dɔlélea le vidzĩa ŋu hã. Woate ŋu awɔ esia to vidzidɔa ƒe kpɔɖeŋu sue aɖe ɖeɖe ( chorionic villus sampling ) alo vidzidɔa me tsi si ƒo xlã vidzĩa dodokpɔ ( amniocentesis ).

Ðewohĩ ɖevi siwo ŋu MSUD ƒomevi bubuwo le la maɖe dzesiwo afia le woƒe ɖevime o. Ðewohĩ dzesiawo madze o vaseɖe ƒe geɖe megbe hafi. Ɣemaɣi la, ɖɔktaa aɖo kpe dɔlélea dzi to ʋudodokpɔ kple domenyiŋusẽfianu dodokpɔ me . Azɔ hã, ʋeʋẽ lilili tɔxɛ si dona tso ɖevia ƒe ŋutilã me nye kpeɖodzi gã aɖe le dɔlélea ŋu.

Nukawoe nye MSUD ƒe atikewo?

Togbɔ be atike aɖeke meli na MSUD o hã la, woate ŋu akpɔ edzi nyuie eye woate ŋu anɔ agbe si sɔ. Taɖodzinu vevi eve le atikewɔwɔ ŋu:

1. Amino acid etɔ̃ mawo ƒe agbɔsɔsɔ dzi kpɔkpɔ le ŋutilãa me.

2. Na atikewɔwɔ kpata ne lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi aɖe do mo ɖa.

1. Nuɖuɖu ƒe ɖoɖo

Esiae nye MSUD dzi kpɔkpɔ ƒe akpa vevitɔ kekeake. Ele be dɔnɔa nawɔ ɖe nuɖuɖu si me kɔ ŋutɔ dzi le eƒe agbemeŋkekewo katã me. Ema fia be woaɖo seɖoƒe na nuɖuɖu siwo me protein sɔ gbɔ ɖo. Elabena amino acid etɔ̃ mawo siwo me kuxiwo le la le protein me.

Wonaa notsi ƒomevi tɔxɛ aɖe vidzĩ si wodzi yeyee si me amino acid etɔ̃ siawo mele o, gake nunyiame bubuawo katã le eme.

Ele vevie be nàwɔ dɔ kple nuɖuɖuŋutinunyala aɖe awɔ nuɖuɖu ŋuti ɖoɖo si le dedie eye wòle lãmesẽ me si sɔ na dɔnɔ ɖesiaɖe.

2. Lé ŋku ɖe nu ŋu ɣesiaɣi

Ele be dɔnɔ si ŋu MSUD le nanɔ atikewɔlawo ƒe dzikpɔkpɔ te le eƒe agbemeŋkekewo katã me. Wowɔa ʋu kple aɖuɖɔ dodokpɔ edziedzi be woatsɔ akpɔ amino acid ƒe agbɔsɔsɔ le ŋutilãa me. Wonɔa te ɖe nusiwo dona tso eme dzi trɔa asi le nuɖuɖua ŋu.

3. Atikewɔwɔ kpata na lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxiwo

Ne lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi ƒe dzesiwo dze le ŋuwò la, ele be nàxɔ wò ɖe kɔdzi enumake. Le kɔdzi la, atikewɔlawo ƒe ƒuƒoƒoa ate ŋu awɔ atike siwo gbɔna:

• Wokpɔa amino acid ƒe agbɔsɔsɔ dzi to sukli kple insulin dodo ɖe ʋuka me (IV) me.
• Wotsɔa nunyiame siwo hiã, gake womegblẽa nu le ame ŋu o, naa ŋutilãa to nasogastric tube alo IV dzi.
• Wowɔa ʋumenugbagbeviɣidɔ tsɔ ɖea aɖinuwo ɖa le ʋua me.
• Woléa ŋku ɖe kuxiwo abe ahɔhɔ̃ ƒe vuvu ene ŋu edziedzi eye wowɔa atike siwo hiã.

Ðe woate ŋu ada dɔléle sia to aklã dodo na ame mea?

Ɛ̃. Esiae nye mɔkpɔkpɔ nyuitɔ kekeake na MSUD dɔnɔwo.Woate ŋu ada MSUD si wozãna tsã la dzidzedzetɔe ne wodo aklã na ame.

Nusitae nye be aklã koŋue wɔa enzyme si gblẽa amino acid siwo me kuxiwo le la me. Eyata ne wodo aklã si le lãmesẽ me la, aklã ma wɔa enzyme si hiã. Le ema megbe la, dɔnɔa ate ŋu anɔ agbe si sɔ nuɖuɖu ƒe mɔxeɖenu alo dzesi aɖeke manɔmee.

Gake aklã dodo na ame nye amekoko vevi aɖe. Afɔkuwo le eme. Ebia hã be atike siwo tsia dɔlélenutsiŋutete nu le eƒe agbemeŋkekewo katã me be ŋutilãa nagagbe aklã yeyea o. Gake mɔnu sia he nu nyui geɖe vɛ na ame geɖe wu agbenɔnɔ kple MSUD.

Ðe mɔ aɖe li si dzi woato axe mɔ ɖe dɔléle sia nua?

Esi MSUD nye domenyiŋusẽfianu ƒe dɔléle ta la, womate ŋu axe mɔ nɛ keŋkeŋ o. Gake woate ŋu aɖe afɔku si le ɖevi ƒe dome be dɔlélea nanyi la dzi akpɔtɔ.

Ne MSUD le wò ƒomea me la, ele vevie be nàƒo nu tso eŋu na wò ɖɔkta hafi adzi vi. Mia kple wò zɔhɛ miate ŋu awɔ domenyiŋusẽfianu ƒe dodokpɔ akpɔe ɖa be mienye amesiwo tsɔa domenyiŋusẽfianu hã. Ne mi ame evea siaa mienye amesiwo tsɔa dɔlélea la, miate ŋu aƒo nu kple domenyiŋusẽfianu ŋuti aɖaŋuɖola tso afɔku si le mia me be woaka dɔlélea na viwòa kple afɔ siwo miate ŋu aɖe atsɔ axe mɔ ɖe enu.