Ðe dɔléle sia si mebɔ o la le viwò suea ŋua? (Nonketotic Hyperglycinemia - NKH) Mina míaƒo nu tso esia ŋu

Ðe viwò si wodzi yeyee la dɔa alɔ̃ ɣesiaɣi, eye metsɔa ɖeke le no nana me oa? Alo ɖe gbɔgbɔ le fu ɖem nɛa? Enye nusi sɔ be wò dzila navɔ̃ ŋutɔ ne èkpɔ nusiawo. Ɣeaɖewoɣi la, nɔnɔme sesẽ aɖe ate ŋu anɔ megbe na dzesi siawo. Nɔnɔme mawo dometɔ ɖekae nye `(Nonketotic Hyperglycinemia)` alo `(NKH)`. Mina míaƒo nu tso esia ŋu tsitotsito eye míaƒo nu tso eŋu egbea ko.

Ènya nusi `(NKH)` fiaa?

Kpuie ko la, ``Nonketotic Hyperglycinemia`` alo ``NKH`` nye domenyiŋusẽfianu ƒe nɔnɔme si mebɔ kura o . Nusi dzɔna enye be mía vidzĩ ƒe ŋutilã mateŋu aɖu molecule si woyɔna be ``glycine`` dzi nyuie alo agbãe o.

Fifia ɖewohĩ èle biabiam be nukae nye `(glycine)` hã. `(Glycine)` nye amino acid `(amino acid)`. Abe alesi ko brik hiã be woatsɔ atu xɔ ene la, amino acid siawo hiã vevie be woatu proteinwo ɖe míaƒe ŋutilã me. Eyata ne vidzĩa ƒe ŋutilã mete ŋu ɖu `(glycine)` sia dzi nyuie o la, edzea ƒoƒo ɖe ŋutilã ƒe akpa vovovowo gɔme, vevietɔ le ahɔhɔ̃a me . Woyɔa esia be `(hyperglycinemia)` ne `(glycine)` ƒe agbɔsɔsɔ dzi ɖe edzi madzemadzee. Esia ate ŋu ahe ahɔhɔ̃mekawo ƒe kuxi sesẽwo, alɔ̃madɔmadɔ, kple ku gɔ̃ hã vɛ na vidzĩa.

Ŋkɔa ƒe akpa si nye "nonketotic" fia nyateƒe si wònye be eto vovo tso dɔléle bubu siwo ateŋu ana glycine nadzi ɖe edzi le ŋutilã me gbɔ. Wogayɔa NKH be vodada si wodzina le lãmenugbagbeviwo ƒe dɔwɔwɔ me . Enye nɔnɔme si dzɔna le vidzidzi me eye wòkpɔa ŋusẽ ɖe alesi atike aɖewo ƒe dɔwɔwɔ le ŋutilã me medzɔna nyuie o dzi. Ŋkɔ bubu si wotsɔ na esiae nye glycine encephalopathy.

Ðe `(NKH)` ƒe vovototo aɖewo lia?

Ẽ, numekulawo ma NKH ɖe hatsotso vevi eve me: blematɔwo kple esiwo to vovo . Esia tsoa tɔtrɔ ƒomevi eve siwo vaa domenyiŋusẽfianuwo me gbɔ. Ŋkɔ siwo nye classical kple variant NKH fia domenyiŋusẽfianu si me tɔtrɔa le.

Wogama klassik `(NKH)` ɖe ƒomevi eve me - sesẽ kple esi gbɔdzɔ . Woda esiawo ɖe hatsotsowo me le alesi dzesiawo nu sẽe nu. Le esiawo dome la , `(NKH)` sesẽe nye esi bɔ wu .

Aleke gbegbee nɔnɔme sia bɔe?

`(NKH)` nye dɔléle si mebɔ kura o . Le xexeame katã la, vidzĩ 76,000 ɖesiaɖe dometɔ ɖeka lɔƒoe dɔléle sia le. Eyata mègavɔ̃ ne èse nya sia o. Ke hã, ele vevie ŋutɔ be nànɔ ŋudzɔ.

Nukae nye `(NKH)` dɔléle ƒe dzesiwo?

Zi geɖe la, ``NKH'' ƒe nɔnɔme sesẽwo kple esiwo mesẽ o siaa ƒe dzesiwo dzea egɔme tso vidzidzi me . Ɣeaɖewoɣi la, dzesiawo ate ŋu adze le eƒe agbenɔƒe ƒe ɣleti ʋɛ gbãtɔwo me.

`(NKH)` nɔnɔme sesẽ ƒe dzesiwo:

Nu gbãtɔ siwo vidzĩ siwo ŋu `(NKH)` sesẽ le ate ŋu ade dzesii enye:

• Alɔ̃dɔdɔ fũu akpa (kuviawɔwɔ): Esia ate ŋu adzi ɖe edzi vivivi eye wòayi ŋgɔ ava zu alɔ̃madɔmadɔ.
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔHypotonia: Vidzĩa ate ŋu ase le eɖokui me be agbe mele ye si o.
• Gbɔgbɔtsixe si ate ŋu ade ame ƒe agbe afɔku me : Woate ŋu akpɔ esia le eƒe agbemeŋkeke gbãtɔwo me.

Ne èƒo asa na dzesi gbãtɔ siawo la, zi geɖe la, àkpɔ nusiwo gbɔna:

• Notsi nono sesẽ.
• Gbɔgbɔtsixetsixe ɣeaɖewoɣi (yagbɔgbɔgbɔ).
• Susu ƒe nuwɔametɔnyenye sesẽ .
• Lãmetsiwo ƒe sesẽ si mesɔ o (spasticity).
• Alɔ̃madɔmadɔ siwo dzi ɖuɖu sesẽna .

Zi geɖe la, ɖevi siawo mete ŋu wɔa nu vevi siwo sɔ le woƒe tsitsi me, abe alesi woaƒu du, fefenu aɖe léle ɖe asi, woanɔ anyi ɖe tsitrenu, kple ahanono tso aŋetu me ene o. Ne wosrɔ̃ nane hã la, aɖaŋu mawo ate ŋu `atrɔ ɖe megbe` le ɣeyiɣi aɖe megbe. Bu ale si gbegbe esia te ɖe dzilawo dzii ɖa.

Attenuated NKH ƒe nɔnɔmewo:

NKH si nu mesẽ o ƒe dzesiwo mesẽna boo o wu NKH sesẽ tɔ, gake zi geɖe la, wosɔna. Zi geɖe la, ɖevi siwo ŋu NKH fafɛ le la ɖoa woƒe tsitsi ƒe nu veviwo gbɔ, gake woƒe ŋutetewo ate ŋu ato vovo ŋutɔ . Ate ŋu ahe tsitsi ɖe megbe, gake ɖevi akpa gãtɔ va srɔ̃a azɔlizɔzɔ kple nuƒoƒo na ame bubuwo mlɔeba. Ðevi aɖewo xɔa alɔ̃madɔmadɔ, gake zi geɖe la, esiawo mesẽna o eye woate ŋu ada wo. Tsɔ kpe ɖe eŋu la, woate ŋu akpɔ dzesiwo abe ʋuʋu le lɔlɔ̃nu faa me (chorea), lãmekawo ƒe sesẽ (spasticity), kple dɔwɔwɔ fũu akpa (hyperactivity) hã.

Nukae nana vidzĩwo xɔa `(NKH)`?

Nusi koŋ gbɔ esia tsonae nye domenyiŋusẽfianu ƒe tɔtrɔ, alo domenyiŋusẽfianu ƒe tɔtrɔ . Vevietɔ la, dɔnɔ siwo ade 80% tsoa domenyiŋusẽfianu si woyɔna be `(GLDC)` ƒe tɔtrɔ gbɔ. Susu mamlɛawo tso tɔtrɔ siwo va le domenyiŋusẽfianu si woyɔna be `(AMT)` me gbɔ.

`(GLDC)` kple `(AMT)` domenyiŋusẽfianu siawo fiaa mɔ míaƒe ŋutilã be wòawɔ `(enzymes)` aɖewo. `(enzymes)` siawo wɔa dɔ ɖekae abe ƒuƒoƒo ene. Woyɔa ƒuƒoƒo sia be `(glycine cleavage system )`. Nusi esia wɔna enye be ne míehiã `(glycine)` o la, egbãnɛ ɖe akpa suewo me. Ne `(Glycine)` ƒe agbɔsɔsɔ dzi ɖe edzi la, edoa kplamatse ahɔhɔ̃ ƒe dɔwɔwɔ.

Eyata ne domenyiŋusẽfianu eve siawo dometɔ ɖesiaɖe ƒe tɔtrɔ aɖe va la, esesẽna na míaƒe ŋutilã be wòagbã glycine. Dzɔdzɔmeŋusẽ ƒe tɔtrɔ aɖewo ɖea glycine ƒe mama ƒe ɖoɖo sia ƒe dɔwɔwɔ dzi kpɔtɔna, evɔ bubuwo ɖenɛ ɖa keŋkeŋ. Ne ɖoɖo sia mewɔ dɔ nyuie o la, glycine si sɔ gbɔ wu la ƒoa ƒu ɖe vidzĩa ƒe ŋutinuwo me, vevietɔ le ahɔhɔ̃a me. Dzɔdzɔmeŋutinunyalawo menya alesi tututu nusiwo mesɔ o siawo nana NKH ƒe dzesiwo dzena la haɖe o.

Dɔléle ``(NKH)`` nye domenyinyi le ``autosomal recessive pattern.`` Esia fia be ele be domenyiŋusẽfianu ƒe kɔpi eveawo siaa le lãmenugbagbevi ɖesiaɖe me nakpɔ tɔtrɔa. Zi geɖe la, domenyiŋusẽfianu sia si trɔ la ƒe kɔpi ɖeka nɔa amesi ŋu ``(NKH)`` le dzila ŋutɔŋutɔ eveawo siaa si, gake womekpɔa dzesi aɖeke o.

Aleke ɖɔktawo wɔa dea dzesi `(NKH)` dɔlélea?

Be woakpɔ `(NKH)` la, viwòa ƒe ɖɔkta awɔ ŋutilãmedɔ gbã eye wòalé ŋku ɖe dzesiawo ŋu nyuie. Ɣe ma ɣi,

• Wodoa `(glycine)` ƒe agbɔsɔsɔ le ahɔhɔ̃meka me tsi (`(Ahɔhɔ̃ me tsi - CSF)`) kple ʋumenugbagbeviɣi `(plasma)` me kpɔna. Ne `(enzyme)` si míeyɔ va yi ƒe dɔwɔwɔ dzi ɖe kpɔtɔ la, `(glycine)` ƒe agbɔsɔsɔ si le `(CSF)` kple plasma me dzina ɖe edzi. Azɔ hã, xexlẽme si le `(glycine)` ƒe agbɔsɔsɔ le `(CSF)` me kple `(glycine)` ƒe agbɔsɔsɔ le ʋumenugbagbevi dzĩ me dome hã dzina ɖe edzi.
• Ahɔhɔ̃a ƒe MRI-dɔdamɔnu hã ɖea vi ŋutɔ, elabena ate ŋu aɖe tɔtrɔ siwo vaa vidzĩ siwo ŋu NKH le ƒe ahɔhɔ̃ me ƒe ɖoɖo aɖe koŋ afia.
• Domenyiŋusẽfianu dodokpɔ ate ŋu akpɔe hã be domenyiŋusẽfianu eve siwo hea NKH vɛ la dometɔ ɖeka trɔ hã.
• Ƒã ŋutɔ la, woate ŋu atsɔ aklã ƒe akpa sue aɖe adoe kpɔ (aklã ƒe lãmenugbagbeviwo ɖeɖe) atsɔ aɖo kpe dɔlélea dzi.

Nukae nye atikewɔwɔ na `(NKH)`?

Esi wònye be zi geɖe la, vidzĩ siwo ŋu `(Nonketotic Hyperglycinemia)` le la dzea dɔ ŋutɔ ta la, ehiã be woawɔ atike na wo le `(Neonatal Intensive Care Unit - NICU)` . Le `(NICU)` me la, viwòa axɔ beléle kple atikewɔwɔ deŋgɔ.

Nublanuitɔe la, fifia la, atike aɖeke meli na `(NKH)` sesẽ o . Gake le vidzĩ siwo ŋu `(NKH)` ƒe nɔnɔme fafɛwo le gome la, atikewɔwɔ aɖewo ate ŋu aɖe vi. Ele be woawɔ atike siawo kaba ahawɔ adã hafi woate ŋu awɔ dɔ nyuie wu.

Woate ŋu ana atike siawo ɖeɖeko alo woaƒo wo nu ƒu:

• Atike siwo ɖea `(glycine)` ƒe agbɔsɔsɔ dzi kpɔtɔna le vidzĩa ƒe ŋutilã me (e.g. `(sodium benzoate)` ).
• Atike siwo wɔa dɔ tsi tre ɖe `(glycine)` ƒe dɔwɔwɔ ŋu le lãmeka aɖewo me (e.g. `(ketamine)` alo `(dextromethorphan)` ).

Alɔ̃madɔmadɔ dzi ɖuɖu hã le vevie ŋutɔ. Ate ŋu asesẽ be woaɖu alɔ̃madɔmadɔ dzi ne wozã atike siwo wozãna ɖaa. Be atikewɔwɔ nadze edzi la, ahiã be nàƒo atike vovovowo nu ƒu, eye ahiã be nàƒo asa na atike aɖewo abe valproic acid ene. Ketogenic nuɖuɖu hã ate ŋu akpe ɖe ame ŋu wòaɖu alɔ̃madɔmadɔ dzi.

Atikewɔwɔ na `(NKH)` ƒe dzesi bubuwo:

• Mɔ̃ɖaŋununya ƒe yaƒoƒo.
• Tube si wotsɔ dea dɔgboa me be wòana nuɖuɖu (gastrostomy tube).
• Lãmesẽfefewɔwɔ.
• Nudede eme kaba kple kpekpeɖeŋu bubuwo.

Ne àte ŋui la, bia wò ɖɔkta tso alesi nàte ŋu akpɔ gome le dɔdamɔnu dodokpɔ aɖe me ŋu .

Nukae nye ame si ŋu `(NKH)` le ƒe agbenɔƒe?

Esesẽ be woagblɔ ɣeyiɣi didi si tututu amesi ŋu NKH le ate ŋu anɔ agbe. Esia le alea elabena domenyiŋusẽfianu ƒe tɔtrɔ vovovo geɖewo li eye dɔlélea ƒe sesẽme toa vovo ŋutɔ. Gake Foundation for Nonketotic Hyperglycinemia bu akɔnta be vidzĩ siwo ŋu dɔlélea le ƒe 80% metsia agbe le vidzĩ ƒe ɣeyiɣi (si nye woƒe agbemeɣleti gbãtɔ) me o . Ne wotsi agbe le vidzĩ ƒe ɣeyiɣia me gɔ̃ hã la, ɖevi geɖe siwo ŋu NKH sesẽ le la menɔa agbe wu ƒe 5 o. Viwòa ƒe atikewɔlawo ate ŋu ana nàkpɔ esia nyuie wu. Ðo ŋu ɖe woƒe nunya kple kpekpeɖeŋu ŋu. Mese alesi gbegbe nya sia sese anya sesẽe gɔme.

Ðe woate ŋu axe mɔ ɖe dɔléle sia nua?

Ao, (NKH) nye domenyiŋusẽfianu ƒe dɔléle eye womate ŋu axe mɔ ɖe enu o . Ne ètsi dzi be ye vi ate ŋu anyi nɔnɔme sia ƒe dome la, anyo be nàƒo nu kple domenyiŋusẽfianu ŋuti aɖaŋuɖola hafi awɔ ɖoɖo ɖe fufɔfɔ ŋu.

Ɣekaɣie wòle be makplɔ vinyea ayi ɖɔkta gbɔ?

Ne viwò si wodzi yeyee la le kuvia wɔm akpa alo metsɔ ɖeke le no nana me o la , ele be nàkplɔe ayi ɖeviwo ƒe dɔdala gbɔ enumake. Ðɔktaa ate ŋu aɖo wò ɖe kɔdzi ƒe dɔwɔƒe si kpɔa nudzɔdzɔ kpatawo gbɔ hã be woawɔ atike na wò enumake. Nuka kee ɖahe dzesi siawo vɛ o, ele vevie be nàna woado wo kpɔ enumake.

Nya kawoe wòle be mabia vinyea ƒe ɖɔkta?

Ne `(NKH)` le viwòa ŋu la, àte ŋu abia nya siawo:

• Nukae nye susu si tae woɖo `(NKH)` ɖo?
• `(NKH)` ƒe tɔtrɔ kae le vinyea si?
• Atikewɔwɔmɔnu kawoe nèkafu?
• Ðe dodokpɔ aɖewo li siwo ate ŋu agblɔ alesi dɔléle sia nu sẽea?
• Afikae vinyea ate ŋu ayi ŋgɔ le le tsitsi gome (azɔlizɔzɔ, nuƒoƒo, nunya)?
• Ðe wòahiã be vinyea nano atike le eƒe agbemeŋkekewo katã mea?
• Ðe vinye siwo ava nye vinyewo hã ate ŋu axɔ `(NKH)`?
• Àte ŋu akafu kpekpeɖeŋunaha aɖea?

Ne wokpɔe be Nonketotic Hyperglycinemia (NKH) le viwòa ŋu la, nyadzɔdzɔa ate ŋu awɔ nuku na wò eye wòatɔtɔ. Ate ŋu awɔ fui ŋutɔ be nàse be dɔléle aɖe si mebɔ o le viwòa ŋu si ƒe atikewɔwɔ ʋɛ aɖewo koe li. Ne anya wɔ la, di kpekpeɖeŋunaha aɖe na ɖevi siwo ŋu NKH le ƒe ƒomewo. Nuƒoƒo na ame bubu siwo to nɔnɔme mawo ke me abe alesi nàte ŋui ene ate ŋu ana ŋusẽ aɖe wò eye wòakpe ɖe ŋuwò nànɔ te ɖe enu. Ðo ŋku edzi be viwòa ƒe atikewɔlawo ƒe ƒuƒoƒoa li be yewoado alɔ wò le mɔa ƒe afɔɖeɖe ɖesiaɖe me.

## Nu Vevi Siwo Dzi Nàɖo Ðo (Take-Home Message)

• (NKH) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o, si nu sẽ ŋutɔ .
• Esia nana atike aɖe si woyɔna be ``glycine'' ƒoa ƒu ɖe vidzĩa ƒe ŋutilã me, vevietɔ le ahɔhɔ̃a me .
• Zi geɖe la, dzesiawo dzea egɔme tso vidzidzi me eye woate ŋu anye alɔ̃dɔdɔ fũ, nuɖuɖu nana sesẽ, gbɔgbɔ sesẽ, kple alɔ̃madɔmadɔ.
• `(NKH)` ƒe nɔnɔme sesẽ aɖeTogbɔ be atike aɖeke meli o hã la, atikewɔwɔ fafɛ aɖewo li.
• Ne dzesi siawo le viwòa ŋu la, ele vevie be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo enumake .
• Menye wò ɖeka koe le mɔzɔzɔ sia me o. Di kpekpeɖeŋu tso wò atikewɔlawo ƒe ƒuƒoƒo kple kpekpeɖeŋunahawo gbɔ . Wò susu ƒe ŋusẽ hã le vevie ŋutɔ.

Mele mɔ kpɔm be nyatakaka sia akpe ɖe ŋuwò. Nu vevitɔ kekeake le ɣeyiɣi sesẽ siawo mee nye be míanɔ te sesĩe.

` Nonketotic Hyperglycinemia, NKH, Glycine, Domenyiŋusẽfianu ƒe Dɔlélewo, Ðeviwo ƒe Dɔlélewo, Ahɔhɔ̃mekawo ƒe Dɔlélewo, Lãmetsiŋusẽ ƒe Gblẽƒewo