Ènya nu tso domenyiŋusẽfianu ƒe dɔléle si mebɔ o si woyɔna be Homocystinuria (HCU) ŋua? Mina míaƒo nu tso eŋu!

Egbea míele nu ƒom tso nɔnɔme aɖe si ŋu míese nu tsoe kpɔ o, gake ele vevie ŋutɔ be amesiame nanya nu tso eŋu. Woyɔa esia be Homocystinuria, alo `(HCU)` kpuie. Ɣeaɖewoɣi la, ne atike aɖewo siwo yia edzi le míaƒe ŋutilã me mezɔ nyuie o la, kuxi siwo míele mɔ kpɔm na o ate ŋu ado mo ɖa. Esia nye nɔnɔme mawo dometɔ ɖeka si woyɔna be `(HCU)`. Mègavɔ̃ o, mina míaƒo nu tso nya sia ŋu bɔbɔe.

Nukae nye Homocystinuria (HCU)?

Kpuie ko la, `(HCU)` nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o . Nusi dzɔna le esia me enye be míaƒe ŋutilã mete ŋu ɖua amino acid `(Homocysteine)` dzi nyuie o, si fia be mate ŋu azãe ahaɖee ɖa o. Bu eŋu kpɔ, nukae adzɔ ne nusiwo ŋu viɖe aɖeke mele o ƒo ƒu ɖe míaƒe ŋutilã me? Nenema ke la, `(Homocysteine)` sia ƒoa ƒu ɖe ʋu kple aɖuɖɔ me dzodzro. Nuƒoƒoƒu sia ate ŋu ahe kuxi sesẽwo vɛ na ŋkuwo, ƒunukpeƒewo (míaƒe ƒunukpeƒewo), titina lãmekawo (ahɔhɔ̃ kple aklã), kple ʋukawo (ʋukawo). Fifia biabia aɖe le asiwò , nukae nye amino acid siawo? Amino acidwoe nye proteinwo ƒe xɔtunu veviwo. Abe alesi ko brik hiã be woatsɔ atu xɔ ene la, amino acid hã hiã be woatsɔ atu proteinwo ɖo le míaƒe ŋutilã me. Míaƒe ŋutilã wɔa `(Homocysteine)` sia ƒe akpa aɖe tso amino acid bubu si woyɔna be `(Methionine)` me. Azɔ hã, tso nuɖuɖu siwo me protein sɔ gbɔ ɖo siwo míeɖuna, le kpɔɖeŋu me, lã, tɔmelã, kple azi me la, míekpɔa `(Methionine)` geɖe wu. Zi geɖe la, míaƒe ŋutilã gblẽa `(Methionine)` sia me eye wòtrɔnɛ wòzua `(Homocysteine)`. Ke hã, le amesi ŋu `(Homocystinuria) le ƒe ŋutilã me la, enzyme aɖe si hiã be wòakpɔ `(Homocysteine)` sia dzi nyuie, si fia be wòanɔ agbɔsɔsɔ si hiã eye wòatrɔ susɔea la, bu, alo mewɔa dɔ nyuie o. Enzyme nye protein ƒomevi aɖe si nana atikewo ƒe dɔwɔwɔ kabakaba le míaƒe ŋutilã me. Eyata ne enzyme sia bu la, `(Homocysteine)` ƒe agbɔsɔsɔ dzina ɖe edzi.

Nukawoe nye homocystinuria ƒomevi veviwo?

Numekulawo ma homocystinuria ɖe ƒomevi vovovowo me le domenyiŋusẽfianu si gbɔ wòtso ta. Wole ƒomevi vevi eve:

1. Cystathionine beta-synthase (CBS) ƒe anyimanɔmanɔ (Classical Homocystinuria) .

Esiae nye homocystinuria ƒomevi si bɔ wu . Cystathionine beta-synthase (CBS) nye enzyme si kpena ɖe ame ŋu wòtrɔa homocysteine ​​wòzua amino acid bubu, si nye cysteine. Dɔléle sia ƒomevi dzɔna ne CBS domenyiŋusẽfianu mewɔa CBS enzyme ʋɛ akpa alo mewɔa dɔ aɖeke kura o, alo ne CBS enzyme mewɔa dɔ nyuie o. CBS ƒe dɔlékuiwutikea hiã vitamin B6, si wogayɔna be pyridoxine, be wòate ŋu awɔ dɔ nyuie. Wogamã ƒomevi sia ɖe alesi nèwɔa nu ɖe ​​vitamin B6 kpeɖeŋutɔ ŋui nu.

2. Cobalamin (cbl) ƒe lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe gbɔdzɔgbɔdzɔ

Ele be míaƒe ŋutilã natrɔ homocysteine ​​la ƒe ɖe agbugbɔ azu methionine. Dɔ sia lɔ vitamin B12, si wogayɔna be cobalamin ɖe eme. Míaƒe ŋutilã toa afɔɖeɖe geɖe me be wòatrɔ homocysteine ​​wòagazu methionine. Homocystinuria, si tsoa cobalamin ƒe anyimanɔmanɔ gbɔ la dzɔna ne ŋutilãa mete ŋu wu afɔɖeɖe sia nu o, mewɔ enzyme nyuitɔ o, alo wòwɔ enzyme siwo gblẽ.

Vovototo kae le homocystinuria kple Marfan ƒe dɔlélea dome?

Marfan ƒe dɔléle nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si gblẽa nu le kadodoŋusẽ ŋu le ŋutilã bliboa me. Dɔléle sia ƒe dzesi geɖe sɔ kple homocystinuria tɔ. Le kpɔɖeŋu me, abɔ kple afɔ didi, asibidɛ didi siwo le tsɛ, ectopia lentis, kple myopia. Gake Fibrillin-1 (FBN1) domenyiŋusẽfianu ƒe tɔtrɔ gbɔe Marfan ƒe dɔlélea tsona. Homocysteine ​​kple methionine ƒe agbɔsɔsɔ si sɔ le amesiwo ŋu Marfan ƒe dɔlélea le me.

Ameka ŋue nɔnɔme sia gblẽa nu le wu? Aleke gbegbe wòbɔe?

Domenyiŋusẽfianu ƒe tɔtrɔ gbɔe homocystinuria tsona. Eyata ame sia ame ate ŋu atue ɖo. Gake numekuku aɖewo ɖee fia be nɔnɔme sia gblẽa nu le amewo ŋu le dukɔ aɖewo me wu bubuwo. Dukɔ siawoe nye:

• Ireland
• Norway
• Germany
• Qatar

Homocystinuria nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o . Dɔléle sia ƒomevi si bɔ wu la dzea ame ɖeka le ame 200,000 ɖesiaɖe me va ɖo ɖeka le ame 335,000 ɖesiaɖe me le xexeame katã. Ema ƒã ŋutɔŋutɔ.

Nukawoe nye homocystinuria ƒe dzesiwo?

`(Homocystinuria)` ƒe dzesiwo toa vovo le ƒomevi si le ŋuwò nu. Zi geɖe la, wodzea dzedze gɔme le eƒe agbenɔƒe ʋɛ gbãtɔwo me. Gake ɖewohĩ dzesi aɖeke madze ame aɖewo ŋu o vaseɖe esime wova tsi. Zi geɖe la, `(Homocystinuria)` ƒomevi si bɔ wu la gblẽa nu le ɖoɖo siawo ŋu:

• Ŋkuwo
• Ƒumeŋuɖui ƒe ɖoɖo
• Titina lãmekawo ƒe dɔwɔwɔ
• Ʋukawo ƒe ɖoɖo

`(Homocystinuria)` ƒe dzesiwo ateŋu anye:

Dzesi siwo gblẽa nu le ŋkuwo ŋu:

• Ŋku ƒe ŋkumeɖonu la ʋãna le eƒe nɔnɔme si sɔ me (ectopia lentis). Esia ate ŋu ana ame nakpɔ nu nyuie .
• Ŋku ƒe nukpɔkpɔ ƒe gbɔdzɔgbɔdzɔ vevie (myopia), si fia be womete ŋu kpɔa nu le didiƒe o.

Dzesi siwo gblẽa nu le ƒunukpeƒewo ŋu:

• Tsitsi si gbɔ eme ɖeɖefia .
• Abɔwo, afɔwo, kple asibidɛwo ƒe didime si mesɔ o.
• Wobɔbɔ kloawo ɖe eme eye kloawo ƒoa wo nɔewo ne afɔawo le dzɔdzɔe (woyɔa esia hã be ``klowo ƒoƒo'').
• Wonyrɔ akɔta la ɖe eme alo dona ɖe ŋgɔ.
• Akɔta ƒe ƒoƒo (scoliosis).
• Amesiwo ŋu homocystinuria le hã le afɔku me be woaxɔ ƒumeŋuɖui .

Dzesi siwo gblẽa nu le lãmekawo ƒe dɔwɔwɔ ŋu:

• Tsitsi ƒe megbetsitsi . Esia fia be màɖe susu alo ŋutilã ƒe tsitsi si sɔ ɖe ƒexɔxɔ nu afia o.
• Nusɔsrɔ̃ ƒe kuxiwo.

Dzesi siwo gblẽa nu le dzitodzito ŋu:

• Ʋu ƒe sisi ƒe afɔku si dzina ɖe edzi. Ʋu ƒe sisi siawo ate ŋu ahe nɔnɔme siwo me afɔku le abe ʋusɔgbɔdɔ alo aklã me ʋu ƒe sisi ene vɛ.

Nukawoe hea homocystinuria vɛ?

Domenyiŋusẽfianu ƒe tɔtrɔ, alo domenyiŋusẽfianu ƒe tɔtrɔ, gbɔe homocystinuria ƒomevi geɖe tsona.

Domenyiŋusẽfianu ƒe nusiwo gbɔ wòtso

`(Homocystinuria)` ƒomevi si bɔ wu la tsoa tɔtrɔ si va le `(CBS)` domenyiŋusẽfianu me gbɔ. `(CBS)` domenyiŋusẽfianu sia gblɔa alesi míaƒe ŋutilã awɔ enzyme si woyɔna be `(Cystathionine beta-synthase)`. Enzyme siae kpɔa atikemɔ si trɔa `(Homocysteine)` acid wòzua `(Methionine)` la dzi. `(Homocystinuria)` ateŋu atso domenyiŋusẽfianu `(MTHFR)`, `(MTR)`, `(MTRR)` kple `(MMADHC)` ƒe tɔtrɔ hã gbɔ. Domenyiŋusẽfianu siawo katã ƒe dɔe nye be woatrɔ `(Homocysteine)` acid wòazu `(Methionine). Ne tɔtrɔ aɖe le domenyiŋusẽfianu siawo dometɔ aɖe ŋu la, enzyme si ŋu nya ku ɖo la mewɔa dɔ nyuie o. Emegbe `(Homocysteine)` dzea ƒoƒo ɖe ŋutilãa me gɔme. Gake numekulawo meka ɖe nusita homocysteine ​​ƒe agbɔsɔsɔ fũ hea homocystinuria ƒe dzesiwo vɛ dzi bliboe haɖe o. Ènyia homocystinuria ƒe dome le autosomal recessive ƒe nɔnɔme me. Esia fia be ne dziwòla ŋutɔŋutɔ evea siaa, siwo zi geɖe la, dzesi aɖeke menɔa wo ŋu o, tsɔ domenyiŋusẽfianu si ŋu dɔlélea le la na wò ko hafi nànyi dɔlélea ƒe dome.

Ðe vitamin ƒe agbɔsɔsɔ si mede ame dzi o ate ŋu ahe homocystinuria vɛa?

Ẽ, homocystinuria ate ŋu adzɔ hã le nusiwo menye domenyiŋusẽfianu o ta. Vitamin B6, vitamin B9 (folate), alo vitamin B12 (cobalamin) ƒe anyimanɔmanɔ vevie hã ate ŋu atso nɔnɔme sia gbɔ.

Aleke wowɔna dea dzesi Homocystinuria?

Le dukɔwo abe United States ene me la, wozãa vidzĩ yeyewo dodokpɔ tsɔ doa lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe nɔnɔme vovovowo kpɔna, siwo dome homocystinuria hã le. Homocysteine ​​dodokpɔa dzidzea homocysteine ​​kple methionine ƒe agbɔsɔsɔ le viwòa ƒe ʋu me. Ne dodokpɔa me tsonu nyuiwo, si fia be nɔnɔmea ate ŋu anɔ eme la, viwòa ƒe ɖɔkta aɖe gbe be woawɔ dodokpɔ bubuwo atsɔ aɖo kpe dodokpɔa me tsonuawo dzi. Gake menye ɣesiaɣie vidzĩ yeyewo dodokpɔ siawo dea pɛpɛpɛ 100% o. Ɣeaɖewoɣi la, ɖewohĩ womate ŋu ade dzesi nɔnɔme aɖewo o. Eyata wokpɔa homocystinuria le ame aɖewo ŋu ne dzesiawo dze vɔ. Togbɔ be dzesi geɖe dzena le vidzĩme alo ɖevimenɔɣi hã la, woate ŋu adze le ame tsitsi me ɣeaɖewoɣi. Ne `(Homocystinuria)` ƒe dzesiwo le ŋuwò la, wò ɖɔkta aɖe gbe be woawɔ `(Homocysteine ​​dodokpɔ)` atsɔ aɖo kpe nɔnɔmea dzi. Ne emetsonuwo ɖee fia be `(classical homocystinuria)` (si nye `(CBS)` ƒe gbɔdzɔgbɔdzɔ) le ŋuwò la, wò ɖɔkta aɖe gbe be woagawɔ dodokpɔ bubu be yeanya subtype si le ŋuwò. Woyɔa esia be `(vitamin B6 ƒe kuxi)` . Dodokpɔ sia kpɔa alesi nèwɔa nui ne èzã vitamin B6 ƒe kpeɖeŋutɔ. Emegbe wò ɖɔkta ate ŋu awɔ atikewɔwɔ ƒe ɖoɖo nyuitɔ na wò. Woateŋu ade `(Classical homocystinuria)` ɖe hatsotso siwo gbɔna me:

• Vitamin B6-responsive: Wò ŋutilã wɔa enzyme ``(CBS)'' wòsɔ gbɔ, eyata vitamin B6 ateŋu akpeɖe enzyme ma ŋu wòawɔ dɔ nyuie.
• Vitamin B6 ƒe akpa aɖe wɔa dɔ: Wò ŋutilã wɔa enzyme ``(CBS)'' ƒe agbɔsɔsɔ aɖe, eyata vitamin B6 ateŋu akpeɖeŋu le akpa aɖe.
• Vitamin B6-non-responsive: Wò ŋutilã mewɔa enzyme ``(CBS)'' wòsɔ gbɔ o, eyata anɔ eme be vitamin B6 makpe ɖe enzyme la ŋu o.

Domenyiŋusẽfianu dodokpɔ ate ŋu ade dzesi domenyiŋusẽfianu siwo hea homocystinuria vɛ ƒe tɔtrɔ. Gake zi geɖe la, ɖɔktawo mezãa esiawo o elabena homocysteine ​​dodokpɔ ɖeɖe dzaa ate ŋu anya dɔlélea.

Nukawoe nye homocystinuria ƒe atikewo?

Homocystinuria dada bia be woakpɔ homocysteine ​​ƒe agbɔsɔsɔ si le wò ʋu me dzi eye woakpɔ wò dzesiwo gbɔ. Zi geɖe la, atikewɔwɔa lɔ vitamin B6 ƒe kpeɖeŋutɔ nono ɖe eme. Ne vitamin B6 (homocystinuria si wonya nyuie) ƒe ƒomevi aɖe le asiwò la, vitamin B6 ƒe kpeɖeŋutɔ ate ŋu asu be wòaɖe wò homocysteine ​​ƒe agbɔsɔsɔ dzi akpɔtɔ ahalé edzi. Gake ne vitamin B6 (homocystinuria si wonya nyuie) si mewɔa nu ɖe ​​eŋu o alo eƒe akpa aɖe mewɔa dɔ o le ŋuwò la, ɖewohĩ vitamin B6 ƒe kpeɖeŋutɔ ɖeɖe dzaa masɔ gbɔ o. Ðewohĩ ahiã be nàzã atikewɔmɔnu bubuwo. Esiawo ate ŋu anye:

• Atike si nye `(Betaine)` (Betaine) alo `(Cystadane): `(Betaine)` kpena ɖe ame ŋu be `( Homocysteine ​​)` ƒe agbɔsɔsɔ dzi ɖena kpɔtɔna le wò ʋu me.
• Nuɖuɖu tɔxɛ na `(Homocystinuria)`: Ele be nàwɔ ɖe nuɖuɖu si xea mɔ na nuɖuɖu siwo me protein kple `(Methionine)` le dzi.
• Nuɖuɖu bubuwo: Ne homocystinuria ƒomevi bubu aɖe le ŋuwò la, ahiã be nàno folate ( vitamin B9 ) alo cobalamin ( vitamin B12 ) kpeɖeŋutɔ hã.

Nu vevitɔ kekeakee nye be ele be woayi atikewɔwɔ sia dzi le agbe me katã . Ema ko hafi nàte ŋu aɖu wò homocysteine ​​ƒe agbɔsɔsɔ dzi, aɖe kuxiwo dzi akpɔtɔ, eye nànɔ agbe le lãmesẽ me.

Ɣeyiɣi didi kae nàte ŋu anɔ agbe kple homocystinuria?

Ne wokpɔe kaba eye wodae nyuie le woƒe agbemeŋkekewo katã me la, ɖevi akpa gãtɔ siwo ŋu Homocystinuria le ate ŋu akpɔ mɔ be yewoanɔ agbe si sɔ, si me lãmesẽ le . Eyata dɔlélea didi kaba kple edada dzi yiyi le vevie ŋutɔ.

Ðe woate ŋu axe mɔ ɖe homocystinuria nua?

Esi wònye domenyiŋusẽfianu ƒe nɔnɔme ta la, womate ŋu axe mɔ ɖe homocystinuria nu o. Gake ne èfɔ fu alo nèle ɖoɖo wɔm be yeadzi vi le etsɔme la, anyo be nàƒo nu kple domenyiŋusẽfianu ŋuti aɖaŋuɖola. Domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ate ŋu akpe ɖe ŋuwò nàse afɔku si le eme be nàdzi vi si ŋu homocystinuria le la gɔme. Enye nusi sɔ be nàse le ɖokuiwò me be yegbɔdzɔ ne èva nya be domenyiŋusẽfianu ƒe dɔléle aɖe le ye alo viwòa ŋu. Di ɣeyiɣi nàsrɔ̃ nusianu si nàte ŋui tso homocystinuria ŋu. Emegbe, di ɖɔkta si se wò nɔnɔmea gɔme bliboe. Dɔwɔwɔ kple lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala ate ŋu ana nàse le ɖokuiwò me be yeate ŋu aɖu eɖokui dzi. Ne ètsɔ nyatakakawo kple nunɔamesiwo do ŋusẽ ɖokuiwò la, àte ŋu akpɔ emetsonu nyuitɔ kekeake.

Mlɔeba la, nu vevitɔ kekeake (Take-Home Message) .

Enyo, eyata mele mɔ kpɔm be fifia èse nusi ŋu míeƒo nu tsoe (Homocystinuria) gɔme nyuie wu. Nu vevi aɖewo siwo dzi wòle be woaɖo ŋkui lae nye esi:

• Nukae nye `(Homocystinuria)`?Domenyiŋusẽfianudɔ si mebɔ o, gake ate ŋu anye nu sesẽ.
• Nusi dzɔna le esia me enye be ŋutilã mete ŋu ɖua atike aɖe si woyɔna be ``Homocysteine,'' dzi nyuie o eye wòƒoa ƒu ɖe ŋutilã me.
• Esia ate ŋu ahe kuxiwo vɛ na ŋkuwo, ƒunukpeƒewo, lãmekawo, kple ʋukawo .
• Nu vevitɔe nye be nàde dzesi dɔlélea kaba eye nàdae nyuie le wò agbemeŋkekewo katã me . Ne èwɔe nenema la, àte ŋu anɔ agbe si sɔ.
• Vitamin B6, nuɖuɖu tɔxɛ aɖe, kple atike aɖewoe nye esia ƒe atike vevitɔwo.
• Ne nya bubu aɖewo gale asiwò ku ɖe esia ŋu, alo ne dzesi siawo le wò ƒomea me tɔ aɖe ŋu la, kpɔ egbɔ be yebia atikewɔlawo ƒe aɖaŋuɖoɖo.

Mègavɔ̃ o, mɔ nyuitɔ si dzi nàto akpɔ atikewɔwɔ ƒe nɔnɔme ɖesiaɖe gbɔe nye be nànya nu tso eŋu nyuie. Homocystinuria, domenyiŋusẽfianu ƒe dɔlélewo, homocysteine, amino acids, vitamin B6, vitamin B12, methionine