So wo ba no nipadua mu nneɛma a ɛsakra no yɛ adwuma yiye? (Momma yensua Inborn Errors of Metabolism ho ade)

So wo ba kumaa no mu duru nyɛ kɛse sɛnea na wɔhwɛ kwan no? Anaasɛ ɔbrɛ na ɔda bere nyinaa? Ɛtɔ da bi a, wɔ saa nneɛma yi akyi no, ebia aduruyɛ mu tebea bi wɔ hɔ a yɛnte ho asɛm pii, nanso ebetumi ayɛ nea ɛho hia kɛse. Ɛnnɛ yɛreka tebea a ɛte saa ho asɛm. Ɛno ne mfomso a wofi awosu mu ba wɔ nipadua mu nneɛma a ɛsakra mu, anaasɛ wɔ aduruyɛ mu no, tebea a wɔfrɛ no Inborn Errors of Metabolism (IEM) . Nsuro, sɛ edin no yɛ den kakra mpo a, momma yɛnka ho asɛm tiawa.

Dɛn ne ‘nkwammoaa mu nneɛma a wɔyɛ’ yi?

Sɛ yɛbɛka no tiawa a, yɛn nipadua te sɛ kar engine. Aduan a yedi na yɛnom ne pɛtro a ɛma engine yi nya ahoɔden. Metabolism yɛ adeyɛ a ɛma wɔfa saa pɛtro yi na wɔdan no ahoɔden, yɛ nneɛma a nipadua no hia na ama anyin, na wɔayi nneɛma a wɔsɛe no afi hɔ nyinaa. Sɛ eyi reyɛ adwuma yiye a, yɛn nipadua no nya apɔwmuden.

Enti, mfomso ketewaa bi a wɔde wo awosu mu wɔ nipadua mu nneɛma a ɛsakra mu (IEM) yɛ mfomso ketewaa bi a wɔde awo no wɔ baabi wɔ engine yi mu, saa nipadua mu nneɛma a ɛsakra yi. Eyi ma nipadua no ntumi nsakra nnuan bi ma ɛnyɛ ahoɔden yiye, anaasɛ entumi nyi awuduru a epira mfi nipadua no mu, na ɛboaboa ano wɔ nipadua no mu.

Dɛn ne IEM su titiriw ahorow?

Tebea horow a ɛte saa ɔhaha pii wɔ hɔ. Ɛsono emu biara. Nanso momma yɛnhwɛ ahorow kakraa bi a wɔtaa yɛ no yiye. Wɔtaa de enzyme a enni dwumadi mu no din to eyinom so.

Dɛn nti na eyi ba? Henanom na eyi to wɔn?

Eyi ne ade a ɛho hia sen biara. Awosu mu nsakrae bi na ɛde tebea horow yi ba . Ɛne sɛ, ɛna anaa agya no mfomso biara nti. Ɛnam nsakrae a ɛyɛ anifere koraa a ɛba bere a nkwammoaa mu mpaapaemu bere a wɔanyinsɛn abofra no.

Awosu mu nkwaadɔm a ɛwɔ yɛn nipadua mu no kyerɛ yɛn sɛ yɛnyɛ protein ahorow a wɔfrɛ no enzymes a ɛho hia ma nipadua mu nneɛma a ɛsakra no. Fa no sɛ saa enzymes yi yɛ adwumayɛfo a wɔwɔ yɛn nipadua mu. Wɔ IEM fam no, nea ɛba ne sɛ esiane saa awosu mu sintɔ no nti, saa adwumayɛfo yi nnya akwankyerɛ a ɛbɛma wɔayɛ adwuma yiye.

Dɛn ne tebea yi ho sɛnkyerɛnne?

Nsɛnkyerɛnne no betumi ayɛ soronko kɛse wɔ onipa biara mu na egyina yare ko a obi wɔ so. Ɛtɔ da bi a, yare no ho sɛnkyerɛnne tumi yɛ anifere koraa, bere a ɛtɔ mmere bi nso a, ebetumi ayɛ nea emu yɛ den. Nsɛnkyerɛnne a ɛtaa ba no bi ni.

• Onyin a entumi nyɛ adwuma yiye: Sɛ obi ntumi nnya mu duru anaa ne tenten.
• Akɔnnɔ:Abofra no mpɛ sɛ obedi anaa ɔbɛnom nufusu.
• Ɔbrɛ ne nna a ɔda bere nyinaa: Abofra no taa yɛ mmerɛw na ɔnyɛ nnam.
• Mu duru a ɛso tew.
• Sɛ obi nya akisikuru (akisikuru).
• Hua soronko a efi nsu, fifiri, anaa ɔhome mu ba: Sɛ nhwɛso no, nyarewa bi betumi ayɛ hua a ɛyɛ dɛ, bere a afoforo nso betumi ayɛ hua soronko koraa.
• Yafunu mu yaw ne ɔfe.

Ɛnyɛ abofra biara a ɔwɔ saa sɛnkyerɛnne ahorow yi na ɔwɔ IEM, nanso sɛ saa sɛnkyerɛnne ahorow yi mu biako anaa nea ɛboro saa kɔ so a, ɛho hia sɛ wokɔ oduruyɛfo nkyɛn ntɛm ara.

Ɔkwan bɛn so na wobehu tebea yi?

Nea eye ne sɛ, ɛnnɛ, wotumi hu nyarewa yi mu pii wɔ awo akyi bere tiaa bi. Wɔ aman bi mu no, wɔnam mmofra a wɔawo wɔn foforo mu nhwehwɛmu so hu eyinom. Wɔ Sri Lanka no, wɔyɛ saa nhwehwɛmu ahorow yi nso wɔ nyarewa bi ho.

Nhwehwɛmu titiriw a wɔde hu yare no ne:

• Mogya ne nsu mu nhwehwɛmu (Metabolic testing): Eyinom tumi hu nnuru a ɛnyɛ ne kwan so a aboaboa ano wɔ nipadua no mu.
• Awosu mu nhwehwɛmu: Mogya anaa nnompe a wɔde yɛ nhwehwɛmu betumi aboa ma wɔahu awosu mu nkwaadɔm a asɛe ankasa.
• Amniocentesis: Wɔ nyinsɛn mu no, wobetumi afa amniotic nsu a atwa akokoaa no ho ahyia no mu kakraa bi de ahwɛ sɛ akokoaa no wɔ saa tebea yi anaa.
• Aniwa mu nhwehwɛmu: Wobetumi ayɛ aniwa mu nhwehwɛmu nso, efisɛ IEM tebea horow bi nso betumi aka aniwa no.

Ɔkwan bɛn so na wɔsa?

Akwan a wɔfa so sa yare no gu ahorow gyina yare ko a ɛwɔ so, nanso botae titiriw ne sɛ wobesiw nipadua no kwan sɛ ɛbɛtwetwe nneɛma a entumi nni ho dwuma na wɔayi awuduru a aboaboa ano wɔ nipadua no mu afi hɔ.

1. W’aduan a wobɛsakra: Eyi ne ayaresa titiriw. Ɛsɛ sɛ woyi nnuan a nipadua no ntumi nyɛ ho adwuma (e.g. protein ahorow bi, srade) fi aduan no mu koraa. Eyi hwehwɛ sɛ obi a onim aduan ho ɔbenfo ne oduruyɛfo afotu.

2. Nnuru a wɔnom: Wobetumi de nnuru a wɔde si enzyme ananmu anaa nnuru a ɛboa ma awuduru fi nipadua no mu ama de asi nipadua no mu enzyme a enni nipadua no ananmu.

3. Dialysis: Wɔ tebea horow bi a emu yɛ den mu no, ebia ɛho behia sɛ wɔde afiri mmoa yi awuduru a aboaboa ano wɔ mogya no mu.

4. Akwaa a wɔde si ananmu: Wɔ tebea horow a emu yɛ den yiye mu no, ebia ɛho behia sɛ wɔde mmerɛbo foforo ma, sɛ nhwɛso no.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ woyɛ ɛna a onyinsɛn a, wo ne wo duruyɛfo nka nhwehwɛmu a wobetumi ayɛ ama wo ba no ho asɛm.

Sɛ wo ba no wɔ sɛnkyerɛnne ahorow a yɛaka ho asɛm wɔ atifi hɔ no bi, titiriw sɛ onyin ho nsɛm bi wɔ hɔ a, hwɛ hu sɛ wobɛkɔ mmofra oduruyɛfo nkyɛn.

Nea ɛho hia sen biara: Sɛ wo ba no nya akisikuru anaasɛ ne ho yɛ hare kɛse a, fa no kɔ ayaresabea a ɛbɛn no no Ayaresa a Ɛho Hia Ntɛmntɛm (ETU) ntɛm ara.

Saa tebea horow yi a wobɛtra ase no betumi ayɛ den, titiriw bere a ɛfa aduan a wodi ho no. Nanso sɛ wɔde aduruyɛ mu afotu ne ayaresa a ɛfata ma mmofra yi a, wobetumi atra ase sɛnea ɛsɛ, na anigye wom.