So wo ba kumaa no wɔ saa yare a ɛntaa nsi yi? (Nonketotic Hyperglycinemia - NKH) Momma yɛnka eyi ho asɛm

So wo ba a wɔawo no foforo no da bere nyinaa, na n’ani nnye nufu a ɔbɛma no ho? Anaasɛ ne home yɛ den? Ɛyɛ ade a ɛfata sɛ wo sɛ ɔwofo sɛ wuhu saa nneɛma yi a, wobɛte ehu nka kɛse. Ɛtɔ mmere bi a, tebea bi a emu yɛ den, na ɛntaa nsi, betumi aba wɔ saa sɛnkyerɛnne ahorow yi akyi. Tebea a ɛte saa no biako ne `(Nonketotic Hyperglycinemia)` anaa `(NKH)`. Momma yɛnka eyi ho asɛm nkɔ akyiri na yɛnka nnɛ ara kwa.

Wunim nea `(NKH)` kyerɛ?

Sɛ yɛbɛka no tiawa a, ``Nonketotic Hyperglycinemia`` anaa ``NKH`` yɛ awosu mu tebea a ɛntaa nsi koraa . Nea ɛba ne sɛ yɛn akokoaa nipadua no ntumi nni molecule bi a wɔfrɛ no ``glycine`` so yiye anaasɛ nsɛe no.

Afei ebia worebisa sɛ dɛn ne `(glycine)`. `(Glycine)` yɛ amino acid `(amino acid)`. Sɛnea birikisi ho hia na wɔde asi ɔdan no, saa ara na saa amino acid ahorow yi ho hia na ama yɛatumi ayɛ protein wɔ yɛn nipadua mu. Enti, sɛ akokoaa no nipadua ntumi nni saa `(glycine)` yi so yiye a, efi ase boaboa ano wɔ nipadua no afã horow, titiriw wɔ amemene no mu . Wɔfrɛ eyi `(hyperglycinemia)` bere a `(glycine)` dodow kɔ soro a ɛho nhia. Eyi betumi ama akokoaa no anya ntini mu haw a emu yɛ den, akɔda, na ɛtɔ mmere bi mpo a owu.

Edin no fã a "nonketotic" no kyerɛ nokwasɛm a ɛyɛ sɛ ɛyɛ soronko wɔ nyarewa afoforo a ebetumi ama glycine akɔ soro wɔ nipadua no mu no ho. Wɔsan frɛ NKH sɛ mfomso a wɔde wo awosu mu wɔ nipadua mu nneɛma a ɛsakra mu . Ɛyɛ tebea a ɛba bere a wɔawo no na ɛka ɔkwan a nnuru bi a ɛyɛ adwuma wɔ nipadua no mu no ntumi nkɔ yiye. Edin foforo a wɔde frɛ eyi ne glycine amemene mu yare.

So `(NKH)` no mu nsakrae bi wɔ hɔ?

Yiw, nhwehwɛmufo kyekyɛ NKH mu abien titiriw: classical ne variant . Nsakrae ahorow abien a ɛba awosu mu nneɛma mu na ɛde eyi ba. Edin classical ne variant NKH kyerɛ awosu mu abɔde a ɛwɔ mutation no.

Classical `(NKH)` no, wɔsan kyekyɛ mu abien - nea emu yɛ den ne nea ɛyɛ mmerɛw . Wɔkyekyɛ eyinom mu sɛnea sɛnkyerɛnne ahorow no mu yɛ den te. Eyinom mu no , `(NKH)` a emu yɛ den ne nea abu so sen biara .

Saa tebea yi abu so dɛn?

`(NKH)` yɛ yareɛ a ɛntaa nsi koraa . Wɔ wiase nyinaa no, nkokoaa 76,000 biara mu bɛyɛ biako na yare yi ka wɔn. Enti sɛ wote eyi ho asɛm a, mma wo ho dwiriw wo. Nanso, ɛho hia paa sɛ yɛma yɛn ani da hɔ.

Dɛn ne `(NKH)` yareɛ ho sɛnkyerɛnne?

``NKH'' a emu yɛ den ne nea emu nyɛ den nyinaa ho sɛnkyerɛnne taa fi ase wɔ awo mu . Ɛtɔ da bi a, sɛnkyerɛnne ahorow betumi ada adi wɔ asetra mu asram kakraa a edi kan no mu.

`(NKH)` tebea a emu yɛ den ho sɛnkyerɛnne:

Nneɛma a edi kan a nkokoaa a wɔwɔ `(NKH)` a emu yɛ den betumi ahu ne:

• Dae a ɛtra so (ɔbrɛ): Eyi betumi akɔ soro nkakrankakra na akɔ so akɔ koma mu.
• Ntini mu mmerɛwyɛHypotonia: Ebia akokoaa no bɛte nka sɛ onni nkwa.
• Ɔhome mu haw a ɛde nkwa to asiane mu : Yebetumi ahu eyi wɔ nkwa nna a edi kan no mu.

Sɛ wokwati saa sɛnkyerɛnne ahorow a edi kan yi a, mpɛn pii no wubehu nea edidi so yi:

• Ɛyɛ den sɛ wobɛnom nufusu.
• Ɔhome a wogyae bere ne bere mu (apnea).
• Adwene mu dɛmdi a emu yɛ den .
• Ntini a ɛyɛ den a ɛnyɛ ne kwan so (spasticity).
• Akisikuru a ɛyɛ den sɛ wobedi so .

Mpɛn pii no, mmofra yi ntumi nyɛ nkɔso mu nneɛma atitiriw a ɛfata, te sɛ nea wɔwea, agode a wokura, tra a wɔsɔre, ne toa a wɔnom. Sɛ wosua biribi mpo a, saa ahokokwaw no betumi `asan akyi` bere a bere kɔ so no. Wo de susuw sɛnea ɛno yɛ awerɛhow ma awofo no ho hwɛ.

Su ahorow a ɛwɔ Attenuated NKH mu:

NKH a emu nyɛ den ho sɛnkyerɛnne no mu nyɛ den pii te sɛ NKH a emu yɛ den de no, nanso ɛtaa yɛ pɛ. Mmofra a wɔwɔ NKH a emu nyɛ den taa du wɔn nkɔso mu nsɛntitiriw ho, nanso wɔn tumi betumi ayɛ soronko kɛse . Ebia nkɔso bɛkyɛ, nanso awiei koraa no mmofra dodow no ara sua sɛnea wɔnantew na wɔne afoforo kasa. Mmofra binom nya akisikuru, nanso mpɛn pii no eyinom nyɛ den na wotumi sa. Afei nso, wobetumi ahu sɛnkyerɛnne ahorow te sɛ kankyee a ɔmpɛ (chorea), ntini a ɛyɛ den (spasticity), ne dwumadi a ɛtra so (hyperactivity) nso.

Dɛn na ɛma nkokoaa nya `(NKH)`?

Nea ɛde eyi ba titiriw ne nsakrae a ɛba awosu mu nkwaadɔm mu, anaasɛ nkwaadɔm mu nsakrae . Titiriw no, ayarefo bɛyɛ 80% fi nsakrae a ɛba awosu mu abɔde a wɔfrɛ no `(GLDC)` mu. Nea aka no fi nsakrae a ɛba awosu mu abɔde a wɔfrɛ no `(AMT)` mu.

Saa `(GLDC)` ne `(AMT)` awosu mu nkwaadɔm yi kyerɛ yɛn nipadua sɛ yɛnyɛ `(enzymes)` ahorow bi. Saa `(enzymes)` yi bom yɛ adwuma sɛ kuw. Wɔfrɛ saa kuw yi `(glycine cleavage system )`. Nea eyi yɛ ne sɛ, sɛ yenhia `(glycine)` a, ɛpaapae mu nketenkete. Sɛ `(Glycine)` dodow kɔ soro a, esiw amemene no dwumadi kwan.

Enti, sɛ nkwaadɔm mu nsakrae bi ba awosu mu nkwaadɔm abien yi mu biara mu a, ɛbɛyɛ den ama yɛn nipadua sɛ ɛbɛpaapae glycine mu. Nsakrae ahorow bi brɛ glycine mu mpaapaemu nhyehyɛe yi dwumadi ase, bere a afoforo yi fi hɔ koraa. Sɛ saa nhyehyɛe yi ntumi nyɛ adwuma yiye a, glycine foforo boaboa ano wɔ akokoaa no akwaa ahorow mu, titiriw amemene no mu. Nyansahufo da so ara nnim sɛnea saa nneɛma a ɛnteɛ yi ma NKH sɛnkyerɛnne ahorow ba no ankasa.

Yareɛ ``(NKH)`` no fi awo mu wɔ ``autosomal recessive pattern.`` Eyi kyerɛ sɛ ɛsɛ sɛ awosu mu abɔde a ɛwɔ nkwammoaa biara mu no mfonini abien no nyinaa nya mutation no. Mpɛn pii no, awofo a wɔwoo obi a ɔwɔ ``(NKH)`` no nyinaa wɔ saa awosu mu abɔde a wɔayɛ no foforo yi biako, nanso wonnya sɛnkyerɛnne biara.

Ɔkwan bɛn so na nnuruyɛfo hu `(NKH)` yare?

Sɛ wobɛhunu `(NKH)` a, wo ba no duruyɛfoɔ bɛdi kan ayɛ nipadua mu nhwehwɛmu na wahwɛ yareɛ no ho nsɛnkyerɛnneɛ no yie. Enneɛ,

• Wɔsɔ `(glycine)` dodow a ɛwɔ amemene mu nsu (`(Cerebral Spinal Fluid - CSF)`) ne mogya mu mogya mu `(plasma)` mu hwɛ. Sɛ `(enzyme)` a yɛadi kan aka ho asɛm no dwumadi so tew a, `(glycine)` dodow a ɛwɔ `(CSF)` ne plasma mu no kɔ soro. Afei nso, nsonsonoe a ɛda `(glycine)` dodow a ɛwɔ `(CSF)` mu ne `(glycine)` dodow a ɛwɔ plasma mu ntam nso kɔ soro.
• MRI scan a wɔde hwɛ amemene no nso so wɔ mfaso kɛse, efisɛ ebetumi akyerɛ nsakrae pɔtee bi a ɛba nkokoaa a wɔwɔ NKH amemene mu.
• Awosu mu nhwehwɛmu nso betumi ahwɛ sɛ nsakrae bi aba awosu mu nkwaadɔm abien a ɛde NKH ba no biako mu anaa.
• Ɛntaa mma koraa sɛ wobetumi afa mmerɛbo no fã ketewaa bi akɔyɛ mu nhwehwɛmu (mmerɛbo mu nhwehwɛmu) de asi so dua sɛ wɔahu yare no.

Dɛn ne ayaresa ahorow a wɔde sa `(NKH)`?

Esiane sɛ nkokoaa a wɔwɔ `(Nonketotic Hyperglycinemia)` taa yare kɛse nti, ɛsɛ sɛ wɔsa wɔn yare wɔ `(Neonatal Intensive Care Unit - NICU)` . Wɔ `(NICU)` mu no, wo ba no benya ɔhwɛ ne ayaresa a ɛkorɔn.

Nea ɛyɛ awerɛhow no, mprempren wonni aduru biara a wɔde sa `(NKH)` a emu yɛ den . Nanso, wɔ nkokoaa a wɔwɔ `(NKH)` a emu nyɛ den fam no, ayaresa ahorow bi betumi aboa. Ɛsɛ sɛ wɔde saa ayaresa ahorow yi ma ntɛm na wɔde ahoɔhare ma na ama atu mpɔn kɛse.

Wobetumi de saa ayaresa ahorow yi nkutoo ama anaasɛ wɔaka abom:

• Nnuru a ɛtew `(glycine)` dodow a ɛwɔ akokoaa no nipadua mu so (e.g. `(sodium benzoate)` ).
• Nnuru a ɛyɛ adwuma tia `(glycine)` adeyɛ a ɛwɔ ntini mu nkwammoaa bi mu (e.g. `(ketamine)` anaa `(dextromethorphan)` ).

Akisikuru a wobedi so nso ho hia yiye. Ebetumi ayɛ den sɛ wɔde nnuru a wɔde di dwuma daa bedi akisikuru so. Sɛ wopɛ sɛ wosa yare yiye a, ebia ebehia sɛ wode nnuru pii bom, na ebia ɛho behia sɛ wokwati nnuru bi te sɛ valproic acid . Ketogenic aduan nso betumi aboa ma wɔadi akisikuru so.

Ayaresa a wɔde sa `(NKH)` sɛnkyerɛnne afoforo:

• Mfiri a wɔde ma mframa.
• Tube a wɔde hyɛ yafunu no mu de ma aduan (gastrostomy tube).
• Nipadua mu ayaresa.
• Nneɛma a wɔde wɔn ho bɛhyɛ mu ntɛm ne mmoa foforo.

Sɛ wubetumi a, bisa wo duruyɛfo no sɛnea wubetumi de wo ho ahyɛ ayaresabea sɔhwɛ bi mu ho asɛm .

Obi a ɔwɔ `(NKH)` nkwa nna yɛ dɛn?

Ɛyɛ den sɛ yɛbɛka bere tenten pɔtee a obi a ɔwɔ NKH betumi atra ase. Nea enti a ɛte saa ne sɛ awosu mu nsakrae ahorow pii wɔ hɔ na sɛnea yare no mu yɛ den no gu ahorow kɛse. Nanso, Foundation for Nonketotic Hyperglycinemia bu akontaa sɛ nkokoaa a wɔwɔ yare no mu 80% ntra ase wɔ akokoaa bere (nkwa mu ɔsram a edi kan) no mu . Sɛ wonya nkwa wɔ awo bere mu mpo a, mmofra pii a wɔwɔ NKH a emu yɛ den no ntra ase ntra mfe 5. Wo ba no aduruyɛ kuw no betumi ama woanya eyi ho adwene pa. Fa wo ho to wɔn nimdeɛ ne mmoa so. Mete sɛnea ɛbɛyɛ sɛ ɛyɛ den sɛ mɛte eyi ase.

So wobetumi asiw yare yi ano?

Dabi (NKH) yɛ awosu mu tebea na wontumi nsiw ano . Sɛ ɛhaw wo sɛ ebia wo ba benya saa tebea yi fi awo mu a, ɛbɛyɛ papa sɛ wo ne awosu ho ɔfotufo bi bɛkasa ansa na woayɛ nyinsɛn ho nhyehyɛe.

Bere bɛn na ɛsɛ sɛ mede me ba no kɔ oduruyɛfo nkyɛn?

Sɛ wo ba a wɔawo no foforo no reda ɔbrɛ dodo adi anaasɛ n’ani nnye nufu a ɔbɛma no ho , ɛsɛ sɛ wode no kɔ mmofra oduruyɛfo nkyɛn ntɛm ara. Oduruyɛfo no nso betumi de wo akɔ ayaresabea hɔ dwumadibea a wɔhwɛ ntɛmpɛ so ma wɔahwɛ wo ntɛm ara. Ɛmfa ho nea ɛde saa sɛnkyerɛnne ahorow yi ba no, ɛho hia sɛ wokɔhwɛ ntɛm ara.

Nsɛm bɛn na ɛsɛ sɛ mibisa me ba no oduruyɛfo?

Sɛ wo ba no wɔ `(NKH)` a, ebia wobɛpɛ sɛ wobisa nsɛm yi:

• Dɛn ne nea enti a wɔhyehyɛɛ `(NKH)`?
• `(NKH)` variant bɛn na me ba no wɔ?
• Ayaresa ahorow bɛn na wokamfo kyerɛ?
• So nhwehwɛmu bi wɔ hɔ a ebetumi akyerɛ sɛnea yare yi mu yɛ den?
• Me ba no betumi anya nkɔso akodu he wɔ nkɔso (nantew, ɔkasa, nyansa) mu?
• So ɛho behia sɛ me ba no nom nnuru ne nkwa nna nyinaa?
• So me mma daakye nso betumi anya `(NKH)`?
• So wubetumi akamfo kuw bi a wɔboa akyerɛ?

Sɛ wohu sɛ wo ba no anya Nonketotic Hyperglycinemia (NKH) a, amanneɛbɔ no betumi ayɛ ahodwiriw na ama n’adwene atu afra. Ebetumi ayɛ den sɛ wubehu sɛ wo ba no wɔ tebea bi a ɛntaa nsi a ayaresa kakraa bi na ɛwɔ mu. Sɛ ɛbɛyɛ yiye a, hwehwɛ kuw bi a wɔboa mmofra a wɔwɔ NKH mmusua. Sɛ wo ne afoforo a wɔafa nneɛma koro no ara a wubetumi akasa a, ebetumi ama woanya ahoɔden kakra na aboa wo ma woagyina ano. Kae sɛ wo ba no aduruyɛ kuw no wɔ hɔ sɛ wɔbɛboa wo wɔ anammɔn biara a wobɛtu.

## Nneɛma a Ɛho Hia a Ɛsɛ sɛ Wokae (Take-Home Message)

• (NKH) yɛ awosu mu yare a ɛntaa nsi koraa na emu yɛ den .
• Eyi ma nnuru bi a wɔfrɛ no ``glycine'' boaboa ano wɔ akokoaa no nipadua mu, titiriw wɔ amemene no mu .
• Mpɛn pii no, sɛnkyerɛnne ahorow no fi ase wɔ awo mu na ebetumi ayɛ nna dodo, aduan a ɛyɛ den, ɔhome a ɛyɛ den, ne akisikuru.
• `(NKH)` tebea a emu yɛ denƐwom sɛ wonni aduru biara de, nanso ayaresa ahorow bi wɔ hɔ a ɛnyɛ den.
• Sɛ wo ba no wɔ saa sɛnkyerɛnne ahorow yi a, ɛho hia sɛ wohwehwɛ aduruyɛfo afotu ntɛm ara .
• Ɛnyɛ wo nkutoo na wowɔ saa akwantu yi mu. Nya mmoa fi w'aduruyɛ kuw ne mmoa akuw ahorow hɔ . W’adwene mu ahoɔden nso ho hia paa.

Mewɔ anidaso sɛ saa nsɛm yi bɛboa wo. Ade a ɛho hia sen biara wɔ mmere a emu yɛ den yi mu ne sɛ wobɛkɔ so ayɛ den.

` Nonketotic Hyperglycinemia, NKH, Glycine, Awosu mu Nyarewa, Mmofra Nyarewa, Ntini mu Nyarewa, Nkwammoaa mu Mfomso