So wo ba no brɛ bere nyinaa? So ɔwɔ aduan ho akɔnnɔ bɔne? Momma yensua saa MCAD Deficiency yi ho ade?

So wo ba kumaa no brɛ na ɔda bere nyinaa? So ɛyɛ den yiye sɛ atiridii kyere no anaasɛ ɔpa aduan bi mpo a? So ɔfe anaasɛ n’ahoɔden so tew wɔ mmere a ɛtete saa mu? Ebia aduruyɛ mu tebea bi wɔ saa nneɛma yi akyi a yɛnka ho asɛm pii, nanso ɛho hia yiye sɛ yehu. Ɛno yɛ tebea a ɛte saa no biako a wɔfrɛ no MCAD a enni nipadua no mu. Ɛnnɛ, yɛbɛka eyi ho asɛm tiawa koraa, wɔ ɔkwan a wubetumi ate ase so.

Sɛ yɛbɛka no tiawa a, dɛn ne MCAD a enni hɔ?

Fa yɛn nipadua no sɛ kar. Kar hia pɛtro na ama atumi atu mmirika. Saa ara na yɛn nipadua hia ahoɔden na ama yɛatumi ayɛ n’adwuma. Yenya saa ahoɔden yi fi aduan a yedi mu. Yɛn ahoɔden fibea titiriw ne carbohydrates (starches) ne srade.

Mpɛn pii no, yɛn nipadua no di kan de carbohydrates di dwuma de nya ahoɔden. Nanso sɛ yɛkɔ nnɔnhwerew pii a yennnidi, anaasɛ yɛrentumi nnidi esiane nyarewa te sɛ atiridii anaa ɔfe nti a, yɛn nipadua fi ase de srade di dwuma sɛ ahoɔden fibea a ɛto so abien.

Enzyme soronko bi wɔ yɛn nipadua mu a ɛdannan saa srade yi ma ɛbɛyɛ ahoɔden. Wɔfrɛ no Medium-chain acyl-coenzyme A dehydrogenase . Saa enzyme yi boa ma srade a ɛwɔ nkɔnsɔnkɔnsɔn a ɛwɔ ntam a ɛwɔ aduan a yedi ne yɛn nipadua mu no mu paapae na ɛma ahoɔden ba.

Wɔ abofra a MCAD nnim mu no , nipadua no ntumi nyɛ enzyme titiriw a mekaa ho asɛm no sɛnea ɛsɛ. Ɛno kyerɛ sɛ sintɔ bi wɔ mu. Enti nea ɛba ne sɛ, sɛ abofra yi kɔ a onnidi bere tenten a, ne nipadua no ntumi mfa srade nni dwuma mfa nnya ahoɔden. Esiane eyi nti, nipadua no ahoɔden so tew mpofirim, na abofra no hu ne ho wɔ tebea a emu yɛ den mu.

Ɔkwan bɛn so na tebea yi ba? So ɛyɛ awosu mu nneɛma?

Yiw, eyi yɛ awosu mu tebea koraa . Ɛno kyerɛ sɛ wonya fi ɛna no anaa agya no hɔ. Nea ɛde eyi ba ne nkwaadɔm mu nsakrae a ɛba awosu mu abɔde a wɔfrɛ no `ACADM` mu.

Eyi fi awo mu wɔ ‘autosomal recessive’ nhyehyɛe mu. Mebɛkyerɛkyerɛ nea ɛno kyerɛ mu tiawa.

Fa no sɛ awofo baanu no nyinaa wɔ `ACADM` awosu mu abɔde no biako a ɛwɔ apɔwmuden, na foforo no nso wɔ nsakrae ketewaa bi (mutation). Nanso esiane sɛ wɔwɔ mfonini biako a ɛwɔ apɔwmuden nti, ɔwofo no mu biara nkyerɛ yare no ho sɛnkyerɛnne biara. Wɔfrɛ wɔn ``asoafoɔ.''

Sɛ awofo baanu bi a wɔsoa nneɛma te sɛ eyi wɔ ba a, .

• Ɛyɛ 25% sɛ abofra benya saa tebea yi (sɛ wonya awosu mu abɔde a wɔayɛ no foforo no fi wɔn maame ne wɔn papa nyinaa hɔ a).
• 50% wɔ hɔ sɛ abofra no bɛyɛ obi a onni sɛnkyerɛnne biara, te sɛ awofo no ara pɛ.
• Ɛyɛ 25% sɛ abofra no rennya saa awosu mu abɔde a wɔayɛ no foforo yi koraa na ɔbɛyɛ abofra a ɔwɔ apɔwmuden koraa.

Dɛn ne MCAD a enni nipadua no mu ho sɛnkyerɛnne ahorow?

Saa nsɛnkyerɛnne yi taa da adi wɔ nkokoaa anaa mmofraase, titiriw bere a abofra no yare atiridii anaa ɔfe na ontumi nnidi, anaa bere a nsonsonoe a ɛda adidi ntam no yɛ kɛse no.

Momma yɛnkyekyɛ saa sɛnkyerɛnne ahorow yi mu abien.

Ɔkwan bɛn so na nnuruyɛfo hu yare yi?

Ade a eye sen biara wɔ ha ne sɛ nnɛ, sɛ wɔwo abofra a , wɔwo akokoaa a wɔawo no foforo.Nkokoaa a wɔawo wɔn foforo mu nhwehwɛmu ma wotumi hu nyarewa pii te sɛ MCAD a enni nipadua no mu ntɛm. Wɔde mogya kakraa bi a woyi fi akokoaa no nan ase wɔ awo akyi nna kakraa bi na ɛyɛ nhwehwɛmu yi.

Eyi kyerɛ sɛ wobetumi ahu sɛ abofra no anya saa tebea yi ansa na wɔada sɛnkyerɛnne biara mpo adi. Eyi yɛ biribi a ebetumi agye wɔn nkwa.

Sɛ mmofra a wɔawo wɔn foforo nhwehwɛmu no ma adwenem naayɛ sɔre wɔ tebea yi ho a, oduruyɛfo no bɛhyɛ sɛ wɔnyɛ nhwehwɛmu foforo mfa nsi so dua.

• Awosu mu nhwehwɛmu
• Mogya ne nsu mu nhwehwɛmu

Sɛ oduruyɛfo no si yare no so dua wie a, ɔde ayaresa ne afotu a ɛho hia bɛma abofra no.

Dɛn ne ayaresa ahorow a wɔde sa eyi? Ɔkwan bɛn so na wɔbɛhwɛ abofra no?

MCAD a enni nipadua no a wɔbɛsa no hwehwɛ sɛ wɔhwɛ abofra no aduan so titiriw . Ade a ɛho hia sen biara wɔ ha ne sɛ wobɛkɔ so akura abofra no ahoɔden mu. Ɛne sɛ, ɛnsɛ sɛ abofra no kɔ bere tenten a onnidi .

Nsɛntitiriw bi a ɛsɛ sɛ wususuw ho bere a wɔreyɛ ayaresa ne ayaresa no ni.

• Ma wo ba no adidi mpɛn pii: Mma ɔkɔm mfa nnɔnhwerew pii. Wɔ nnuan atitiriw akyi no, ɛsɛ sɛ wode nnuan nketenkete ma. Ɛnyɛ papa sɛ wobɛkɔ a wunnnidi bere tenten, anadwo mpo. Sɛ wo ba no yɛ abofra a, ebia ɛho behia sɛ wunyane no anadwo ma no nufusu ne aduan bi.
• Nnuan a carbohydrates pii wom: Fa nnuan a starch wom te sɛ aburow, paanoo, ɛmo, ɛmo, ne aburow ka wo ba no aduan ho. Eyinom ma nipadua no nya ahoɔden a ehia ntɛm.
• To nnuan a srade pii wom ano hye: Eyi nkyerɛ sɛ wubetwa srade so koraa, nanso ɛyɛ papa sɛ wobɛto nneɛma te sɛ nnuan a srade pii wom a wɔayam no ano hye.
• Carnitine a wɔde ma: Mmofra binom betumi ama wɔn duruyɛfo aduru bi a wɔfrɛ no ``Carnitine''. Eyi boa nipadua no ma srade dan ahoɔden.

Sɛ woyare a, dɛn na woyɛ?

Eyi ne ade a ɛho hia sen biara. Sɛ abofra a MCAD nni no nya yare bi te sɛ atiridiinini, ɔfe, anaa akisikuru a, ɛyɛ asiane kɛse. Efisɛ saa bere no abofra no rendidi, na nipadua no ahoɔden so bɛtew ntɛmntɛm.

Ɛtɔ mmere bi a, sɛ ɛsɛ sɛ wɔyɛ abofra oprehyɛn a, ebehia sɛ wodi mmuada ansa na wɔayɛ oprehyɛn no. Wɔ tebea horow a ɛtete saa mu no, oduruyɛfo no de abofra no bɛkɔ ayaresabea na wama no glucose saline (IV nsu) na ama nsu akɔ so anya nsu.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn? Bere bɛn na ɛsɛ sɛ mekɔ ETU?

Sɛ wɔahu sɛ wo ba no nni MCAD a, kɔ wo duruyɛfo nkyɛn ntɛm ara wɔ tebea horow a edidi so yi mu:

• Sɛ abofra no nnidi sɛnea ɛsɛ anaasɛ ɔrehuruw adidi a.
• Sɛ abofra no nya atiridiinini, ɔkɔ so da dodo, anaasɛ ɛte sɛ nea wayɛ mmerɛw a.
• Sɛ abofra no kɔ so fe a.

Bere a ɛsɛ sɛ wokɔ Emergency Treatment Unit (ETU) ntɛm ara:

• Sɛ wo ba no nya akisikuru a, fa no kɔ ayaresabea dan a ɛbɛn hɔ a wɔhwɛ wɔn a wɔwɔ ayaresa a egye ntɛmpɛ mu (ETU) a wonnyɛ hwee bio. Akisikuru yɛ yare yi mu nsɛnnennen a emu yɛ den sen biara no mu biako.

Abofra a ɔwɔ saa yare yi betumi atra ase sɛnea ɛsɛ?

Yiw koraa! Ɛno ne ade a ɛho hia na ɛma abotɔyam sen biara wɔ ha. Sɛ wohu saa yare yi ntɛm denam Newborn Screening so wɔ awo mu na wɔhwɛ aduan no so sɛnea oduruyɛfo no kyerɛ no pɛpɛɛpɛ a, mmofra dodow no ara betumi atra ase a ahoɔden wom koraa, a ɛfata a ɔhaw biara nni ho.

Nanso, sɛ wɔanhu saa yareɛ yi, kyerɛ sɛ, sɛ wɔansa no yareɛ berɛ a nsɛnkyerɛnneɛ no da adi a, mmofra 20%-25% bɛtumi adi dɛm a ɛkyɛ anaa owuo mpo. Ɛno nti na mmofra a wɔawo wɔn foforo a wɔbɛhwehwɛ wɔn mu na wɔahu yare no ntɛm no ho hia kɛse no.