So wo ba no wɔ PKU? (Phenylketonuria) - Momma yɛnka eyi ho asɛm nkɔ akyiri!

So woyɛ akokoaa a wɔawo no foforo ɛna? Anaasɛ woate sɛ obi a ɔwɔ w’abusua mu anaa w’adamfo bi ba wɔ saa tebea yi? Sɛ saa a, asɛm yi bɛyɛ nea ɛho hia wo paa. Ɛnnɛ yɛrebɛka Phenylketonuria , anaa PKU tiawa, tebea a nnipa pii ate ho asɛm na wɔmfaa, nanso ɛfata yiye sɛ wohu ho asɛm. Mma ɛnhaw wo, yɛbɛka eyi ho asɛm tiawa, wɔ ɔkwan a wubetumi ate ase so.

Dɛn ne PKU (Phenylketonuria)? Momma yɛnte ase kɛkɛ!

Sɛ yɛbɛka no tiawa a, PKU yɛ awosu mu tebea . Ɛne sɛ, nsakrae ketewaa bi a ɛba yɛn awosu mu nkwaadɔm mu na ɛde ba. Eyi ma yɛn nipadua no ntumi nni ade bi a wɔfrɛ no phenylalanine ho dwuma yiye .

Seesei ebia woresusuw nea phenylalanine yɛ ho. Ɛyɛ amino acid bi a wɔfrɛ no amino acid . Amino acid te sɛ nneɛma nketenkete a wɔde si dan a ɛboa ma wɔyɛ protein. Phenylalanine wɔ nnuan a yedi no pii mu, titiriw nea protein pii wom no. Ɛsan nso wɔ nneɛma bi a wɔde yɛ aduan a ɛyɛ dɛ te sɛ aspartame .

Mpɛn pii no, wɔ obi a ɔwɔ apɔwmuden mu no, wɔkyekyɛ phenylalanine yi mu ma ɛyɛ dodow a wɔhwehwɛ na wɔyɛ ho adwuma wɔ ɔkwan bi so a nipadua no betumi atwe. Nanso, wɔ obi a ɔwɔ PKU mu no, saa adeyɛ yi nkɔ yiye. Afei, saa phenylalanine yi fi ase boaboa ano wɔ nipadua no mu. Ɛte sɛ paipu a asiw wɔ nsukorabea a nsu ahyɛ mu ma. Saa nneɛma a wɔaboaboa ano yi na ɛde ɔhaw ahorow ba. Titiriw no, ebetumi aka amemene no nkɔso . Sɛ wɔansa a, tebea horow te sɛ `adwene mu dɛmdi` betumi aba.

So PKU ahorow ahorow wɔ hɔ?

Yiw, PKU ahorow pii wɔ hɔ, a egyina sɛnea emu yɛ den so. Nsɛnkyerɛnne nso gu ahorow gyina ɔkwan a wɔfa so yɛ no so, titiriw wɔ wɔn a wonnya ayaresa no mu.

Wobetumi ahu ahorow atitiriw abiɛsa:

• Classic PKU: Eyi ne ɔkwan a emu yɛ den sen biara .
• PKU a ɛkɔ fam anaasɛ ɛnyɛ den: Eyi nyɛ den kakra.
• Hyperphenylalaninemia a emu nyɛ den: Eyi ne tebea no a emu nyɛ den koraa . Sɛ wɔannya ayaresa mpo a, asiane a ɛwɔ hɔ sɛ saa nkurɔfo yi benya adwene mu dɛmdi no sua koraa.

Hena na PKU tebea yi ka no kɛse?

Esiane sɛ PKU yɛ awosu mu nneɛma nti, obiara a nsakrae aba PAH awosu mu nkwaadɔm no mfonini abien no nyinaa mu no betumi anya tebea no. Nhwehwɛmu ahorow bi kyerɛ sɛ nnipa a wofi Amerikafo Ankasa anaa Europa abusua mu no wɔ asiane mu kakra.

Ade foforo a ɛho hia ne sɛ ɛna a onyinsɛn a ɔwɔ PKU a wontumi nni so, a ɛkyerɛ sɛ phenylalanine dodow a ɛkɔ soro yiye wɔ ne mogya mu no betumi awo akokoaa a onni PKU.Ebetumi aka akokoaa no adwene mu nkɔso, ama wawo dɛmdi, na ɛde ɔhaw afoforo aba. Enti, ɛho hia yiye sɛ wodi PKU so bere a wɔyem no.

PKU abu so dɛn?

Sɛnea akontaabu a efi aman te sɛ United States kyerɛ no, PKU ka mmofra a wɔawo wɔn foforo bɛyɛ 10,000 kosi 15,000 biara mu biako . Ɛwom sɛ ɛyɛ den sɛ wobenya eyi ho akontaabu pɔtee wɔ Sri Lanka de, nanso wobetumi ahu tebea yi wɔ wiase baabiara.

Dɛn ne PKU ho sɛnkyerɛnne ahorow? Mma wo ho nnyɛ wo hu, hu eyi!

Wɔ aman pii mu, a ayaresabea ahorow bi a ɛwɔ Sri Lanka ka ho no, wɔyɛ mmofra a wɔawo wɔn foforo mu nhwehwɛmu dedaw de hu sɛ wɔwɔ PKU anaa, na ɛma wotumi hu tebea no ansa na sɛnkyerɛnne ahorow ada adi. Enti, mprempren yare no ho sɛnkyerɛnne a ɛba no sua koraa.

Nanso, sɛ wɔanhu saa tebea yi wɔ ɔkwan bi so anaasɛ wɔansa a, sɛnkyerɛnne ahorow bi betumi ada adi. Eyinom ne:

• Honam ani nyarewa te sɛ eczema .
• Nsakrae a ɛba honam ani ne/anaasɛ ti nhwi kɔla mu ( honam ani ne ti nhwi a ɛyɛ hare sen abusua mufo afoforo).
• Ti kɛse sua sen sɛnea ɛte daa (microcephaly) .
• Hua a ɛyɛ nwunu a efi ɔhome, honam ani, anaa nsu mu. Ɛyɛ huam te sɛ biribi dedaw.

Nsɛnkyerɛnne a emu yɛ den sen biara a ebetumi aba sɛ wɔansa a, ne:

• Suban ho haw ahorow .
• Nkɔsoɔ a ɛkyɛ - Wei kyerɛ sɛ akokoaa nkɔsoɔ mu nsɛntitiriw te sɛ serew, ne ti a wɔma ɛkɔ soro, ne nantew no kyɛ.
• Adwene mu dɛmdi ahorow .
• Ɛntaa mma sɛ akisikuru te sɛ akisikuru betumi aba.

Nea ɛho hia: Kae sɛ, sɛ wɔansa saa sɛnkyerɛnne ahorow yi mu pii a, ɛba. Mprempren, mmofra a wɔawo wɔn foforo mu nhwehwɛmu tumi hu eyi ntɛm, enti biribiara nni hɔ a ɛsɛ sɛ ɛhaw wɔn ho.

Dɛn na ɛde PKU ba ankasa?

Nea ɛde PKU ba titiriw ne nsakrae a ɛba PAH awosu mu abɔde a ɛwɔ yɛn nipadua mu no mfonini abien no nyinaa mu. Saa PAH awosu mu abɔde yi kyerɛ yɛn nipadua sɛ yɛnyɛ enzyme bi a wɔfrɛ no phenylalanine hydroxylase . Saa enzyme yi dan amino acid phenylalanine a yedi no ma ɛbɛyɛ protein a nipadua no betumi de adi dwuma.

Enti, sɛ saa PAH awosu mu abɔde yi ntumi nyɛ adwuma yiye a, enzyme no ntumi nyɛ adwuma, anaasɛ ɛnyɛ adwuma yiye. Afei, phenylalanine a efi aduan mu boaboa ano wɔ nipadua no mu. Yɛn nipadua, titiriw amemene no, te nka kɛse wɔ phenylalanine a ɛboro so ho. Ɛno nti na amemene no betumi asɛe no.

Ɔkwan bɛn so na PKU nam awosu mu nkwaadɔm so nya?

Dɛn ne PKU?Awosu mu tebea a wonya fi awofo hɔ kɔ mmofra hɔ wɔ autosomal recessive nhyehyɛe mu. Ebia eyi bɛyɛ te sɛ nyansahu mu asɛmfua kakra, nanso wɔ nsɛm a ɛnyɛ den mu no, ɛte sɛ:

Fa no sɛ, wɔfrɛ gene a ɛde PKU ba no "p". Wɔfrɛ awosu mu abɔde a ɛwɔ apɔwmuden no "P".

Sɛ abofra benya PKU a, ɛsɛ sɛ onya "p" gene fi ɛna ne agya no nyinaa hɔ (kyerɛ sɛ, ɛsɛ sɛ ɛyɛ "pp").

Mpɛn pii no, awofo betumi ayɛ PKU awosu mu abɔde yi akurafo . Ɛno kyerɛ sɛ, wobetumi anya gene no sɛ "Pp". Wonnya PKU ho sɛnkyerɛnne no, efisɛ "P" awosu mu abɔde a ɛwɔ apɔwmuden no reyɛ adwuma. Nanso, wobetumi de saa "p" gene no akɔma wɔn mma.

Enti, sɛ awofo baanu no nyinaa yɛ asoafo (Pp x Pp), bere a wɔwɔ abofra no:

• 25% wɔ hɔ sɛ abofra bi benya PKU (pp).
• Ɛyɛ 50% sɛ abofra no bɛyɛ ɔsoafoɔ (Pp) - sɛnkyerɛnne biara nni ho.
• 25% wɔ hɔ sɛ abofra no benya awosu mu nkwaadɔm a ɛwɔ apɔwmuden (PP) abien no nyinaa - PKU biara nni hɔ, na ɛnyɛ nea ɔde nneɛma kɔ.

Ɛno nti na ɛyɛ biribi a ɛsɛ sɛ efi awofo baanu no nyinaa hɔ.

Wobɛyɛ dɛn ahu sɛ wowɔ PKU?

Mpɛn pii no, wɔnam nhwehwɛmu a wɔyɛ de hwehwɛ mmofra a wɔawo wɔn foforo mu, a wɔyɛ wɔ akokoaa a wɔawo akyi nnɔnhwerew 24 kosi 72 so na ehu PKU . Nea ɛka eyi ho ne sɛ wɔde ade ketewaa bi bɛbɔ akokoaa no nan ase na wɔafa mogya kakraa bi . Eyi hwɛ phenylalanine dodow a ɛwɔ akokoaa no mogya mu.

• Sɛ phenylalanine dodow a ɛwɔ akokoaa no mogya mu dɔɔso a, nnuruyɛfo bɛyɛ nhwehwɛmu foforo (mogya anaa nsu mu nhwehwɛmu) de ahu PKU tebea no, na wɔahu PKU ko a ɛyɛ nso.
• Esiane sɛ PKU yɛ awosu mu tebea nti, wobetumi ayɛ awosu mu nhwehwɛmu de ahu awosu mu nsakrae pɔtee a ɛde sɛnkyerɛnne ahorow no ba.

Sɛ wɔanyɛ nhwehwɛmu a wɔde hwehwɛ mmofra a wɔawo wɔn foforo mu a, wobetumi ahu PKU wɔ mfe biara mu, nanso dodow a wohu no ntɛm no, dodow no ara na eye.

Ayaresa bɛn na ɛwɔ hɔ ma PKU?

PKU ayaresa yɛ adeyɛ a ɛkɔ so wɔ wɔn nkwa nna nyinaa mu . Nanso mma ɛnhaw wo, sɛ wɔhwɛ so yiye a, wubetumi atra ase a ahoɔden wom. Ebia ayaresa no bi ne:

1. Aduan titiriw: Eyi ne ade a ɛho hia sen biara. Ɛsɛ sɛ wudi aduan a phenylalanine nnim nanso aduannuru afoforo pii wom .

2. Vitamins, minerals, ne aduannuru a wɔde ma: Eyinom ho hia na ama woanya aduannuru a wuhia, efisɛ adidi betumi ama woahwere aduannuru bi.

3. Nnuru: Wobetumi ama nnipa binom aduru bi te sɛ sapropterin dihydrochloride (Kuvan®) . Eyi boa nipadua no ma phenylalanine no bubu.

4. Aduru a wɔfrɛ no Pegvaliase (Palynziq®): .Nnipa a wɔnom saa aduru yi betumi adidi sɛnea ɛsɛ a wonni anohyeto titiriw a ɛfa aduan a wodi ho. Eyi si enzyme a ɛpaapae phenylalanine a ɛnyɛ adwuma yiye wɔ nnipa a wɔwɔ PKU nipadua mu no ananmu.

Sɛ wo anaa wo ba wɔ PKU a, ɛsɛ sɛ wo ne wo duruyɛfo ne aduan ho ɔbenfo yɛ adwuma na wɔyɛ ayaresa nhyehyɛe a eye sen biara.

Nnuan bɛn na phenylalanine wom? Momma yɛnhwɛ eyinom so yiye!

Ɛsɛ sɛ nnipa a wɔwɔ PKU (gye sɛ wɔnom aduru bi a wɔfrɛ no `Pegvaliase`) to nnuan a phenylalanine pii wom ano hye. Eyinom wɔ nnuan a protein pii wom mu. Nhwɛsoɔ:

• Nufusu ne nufusu mu nneɛma (cheese, yogurt) .
• Nkwaa a wɔde yɛ nkesua
• Nnuadewa (te sɛ atoko, akutu) .
• Nsunam
• Akokɔ
• Nantwinam
• Atoko te sɛ bankye ne atoko
• Aspartame, ade a wɔde yɛ aduan dɛdɛ (ebia wobehu wɔ anonne ne nnuan bi a asikre nnim mu) .

So aduan titiriw bi wɔ hɔ ma obi a ɔwɔ PKU?

Yiw, koraa. Ɛsɛ sɛ obi a ɔwɔ PKU (ɔnnom aduru `Pegvaliase`) di aduan a protein kakraa bi na ɛwom akyi . Ɛsɛ sɛ wɔtew nnuan a protein pii wom te sɛ nam, mpataa, nkesua, ne nufusu mu nneɛma so sɛnea wobetumi, anaasɛ wogyae koraa.

Nanso eyi nyɛ mmerɛw sɛnea ɛte no. Efisɛ protein ho hia ma nipadua no. Enti, ɛho hia yiye sɛ wo ne oduruyɛfo anaa aduan ho ɔbenfo kasa na wobɔ aduan a ɛkari pɛ a ɛma aduannuru afoforo a nipadua no hia nyinaa. Nnuan titiriw bi wɔ hɔ a wɔde ma nkokoaa a wɔwɔ PKU, a phenylalanine sua, nanso ɛda so ara wɔ aduannuru afoforo a ɛho hia.

Fa no sɛ wowɔ akokoaa ketewaa bi wɔ fie a ɔwɔ PKU. Ɛsɛ sɛ wohwɛ yiye dɛn wɔ aduan a wode ma no no ho? Ɛsɛ sɛ wohwɛ aduan biara a wɔde ahyɛ mu na wuhu phenylalanine dodow a ɛwɔ mu. Ɛyɛ afɔrebɔ kɛse, nanso ɛfata ma abofra no daakye.

So wobetumi asiw PKU ano?

Esiane sɛ PKU fi awosu mu nti, ɔkwan biara nni hɔ a wɔbɛfa so asiw tebea yi ano.

Nanso, sɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn a, wubetumi ayɛ awosu mu afotu ne carrier screening de ahu sɛ ebia wo ne wo hokafo no kura PKU awosu mu abɔde no anaa. Eyi bɛboa wo ma woate asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ PKU no ase.

Daakye bɛn na obi a ɔwɔ PKU betumi ahwɛ kwan?

Eyi yɛ ɔhaw a nnipa pii wɔ. Ɛwom sɛ PKU yɛ tebea a ɛkɔ so wɔ wɔn nkwa nna nyinaa mu de, nanso sɛ wɔhwɛ so yiye a, nnipa dodow no ara betumi atra ase a ahoɔden wom na ɛfata.

• Bere a wɔahu sɛ yare no awie no, ɛho hia sɛ wɔyɛ mogya mu nhwehwɛmu daa na ama wɔahu phenylalanine dodow a ɛwɔ mogya no mu . Eyi ne ɔkwan a wubetumi afa so ahu sɛ ebia wɔredi aduan no akyi yiye ne sɛ ebia aduru no reyɛ adwuma yiye anaa.
• Wɔn a wɔreyɛ adidi bi fam no, aduan ho ɔbenfoƐboa paa sɛ wo ne wɔn bɛyɛ adwuma abɛn. Wɔkyerɛ wo nnuan a ɛsɛ sɛ wudi, nea ɛsɛ sɛ wokwati, ne sɛnea wubenya aduannuru a wo nipadua hia no pɛpɛɛpɛ.
• Sɛ ɔbea a ɔwɔ PKU nyinsɛn a, ne duruyɛfo ne aduannuru ho ɔbenfo bɛbom ayɛ aduan ho nhyehyɛe titiriw bi a ɛbɛma ɛna no anya aduannuru a ohia bere a ɛremma ɔhaw biara a ebetumi apira akokoaa no so no.

Mɛyɛ dɛn atumi abɔ me ho ban/me ba ho ban afi PKU ho?

PKU a wobehu no yɛ tebea a ɛba wo nkwa nna nyinaa mu, enti ɛho hia sɛ wo ne wo duruyɛfo di nkitaho daa na wohwɛ phenylalanine dodow a ɛwɔ wo mogya mu no so.

• Sɛ woredidi a, fa vitamin ne nnuru a ɛho hia a wode bɛma wo no na ama woatumi asiesie protein a wunni no.
• Di saa aduan yi akyi wo nkwa nna nyinaa. Sɛ ɛnte saa a, sɛnkyerɛnne ahorow no betumi asan aba bio na abɛyɛ asiane ama w’akwahosan.
• Sɛ woresusuw ho sɛ wubefi abusua ase a, wo ne wo duruyɛfo nka awosu mu nhwehwɛmu ho asɛm , a ebetumi aboa wo ma woate asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ PKU no ase.

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

• Sɛ wo anaa wo ba nya sɛnkyerɛnne ahorow a ɛfa PKU ho (nea yɛadi kan aka ho asɛm) a, kɔ oduruyɛfo nkyɛn ntɛm ara ma wɔnyɛ no mu nhwehwɛmu a edi mũ.
• Ansa na wobɛnyinsɛn, anaa wo nyinsɛn no mfitiaseɛ no, wobɛtumi abisa wo duruyɛfoɔ afa carrier screening , a ɛbɛtumi aboa wo ne wo hokafoɔ ama woahunu sɛ ebia wowɔ asiane mu sɛ wobɛwo abofra a ɔwɔ PKU anaa.
• Sɛ wowɔ PKU a, kɔ wo duruyɛfo nkyɛn daa ma wɔnyɛ wo mogya mu nhwehwɛmu na wɔnhwɛ wo so.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wowɔ nsɛmmisa bi fa PKU anaa wo ba no PKU tebea ho a, nsuro sɛ wubebisa. Nhwɛso ahorow bi ni:

• " Mɛyɛ dɛn ahwɛ ahu sɛ me ba no renya aduannuru a ɛfata na ama wanya apɔwmuden?"
• "So ɛsɛ sɛ me/me ba no nom vitamin anaa aduannuru foforo biara?"
• "So aduan a protein kakraa bi nnim dɔɔso sɛ ɛbɛtew me/me ba phenylalanine dodow so, anaasɛ ɛsɛ sɛ menom nnuru nso?"
• "Nneɛma bɛn na ɛsɛ sɛ mehwɛ yiye wɔ ho bere a meresiesie aduan titiriw yi?"
• "Sɛ abofra bi rekɔ sukuu a, ɛbɛyɛ dɛn na ɛsɛ sɛ wɔbɔ sukuu no amanneɛ wɔ wɔn aduan ne wɔn anonne ho?"

Mfiase no, nnuan a phenylalanine nnim a wobɛpaw no betumi ayɛ den kakra, nanso bere a wo ne wo duruyɛfo ne aduannuru ho ɔbenfo reyɛ adwuma no, wobɛma ayɛ wo su.

Nea etwa to no, nneɛma bi a ɛho hia a ɛsɛ sɛ wokae (Take-Home Message) .

Ɛwom sɛ PKU yɛ nkwa nna nyinaa tebea de, nanso wobetumi adi ho dwuma yiye. Nea ɛho hia ne sɛ wubehu no ntɛm na woadi ho dwuma yiye.

• Nkokoaa a wɔawo wɔn foforo mu nhwehwɛmu ho hia yiye. Etumi hu nyarewa afoforo te sɛ PKU ntɛm.
• Sɛ wuhu sɛ wowɔ PKU ara pɛ a, hwɛ hu sɛ wobɛhwehwɛ aduruyɛ mu afotu ne akwankyerɛ afi aduannuru ho ɔbenfo hɔ .
• Aduan a wodi so katee ne sɛ ɛho hia a, nnuru a wɔde di dwuma wɔ nkwa nna nyinaa mu no ho hia na ama wo anaa wo ba amemene anyin yiye.
• Hwɛ wo phenylalanine dodow so denam mogya mu nhwehwɛmu a wɔyɛ no daa so .
• Ɛnyɛ wo nko ara. Nnipa afoforo a wɔwɔ PKU ne wɔn mmusua a wo ne wɔn bɛbɔ no betumi ayɛ ahoɔden ne nkuranhyɛ kɛse ama wo wɔ mmoa akuw mu .
• Sɛ woyɛ abofra a ɔwɔ PKU awofo a, kyerɛkyerɛ wo ba no ma ɔmfa boasetɔ ne ɔdɔ ntra tebea yi mu .

Mewɔ anidaso sɛ saa nsɛm yi aboa wo ma woanya ntease pa wɔ PKU (Phenylketonuria) ho. Kae sɛ nhumu ne akode a eye sen biara a wɔde ko tia akwahosan ho haw biara!

` PKU, Phenylketonuria, phenylalanine, awosu mu nyarewa, mmofra a wɔawo wɔn foforo, aduan, aduan a protein nnim, mmofra a wɔawo wɔn foforo nhwehwɛmu