So eyi yɛ ammonia a ɛkɔ soro wɔ wo nipadua mu? Momma yensua OTC Deficiency ho ade!

Ebia woate sɛ sɛ yɛn nipadua no nni nneɛma bi mu a, ɔhaw akɛse betumi asɔre. Ɛno ne nea OTC a enni hɔ yi kyerɛ. Susuw nea ɛbɛba sɛ enzyme bi a ehia na ama ayɛ adwuma yiye nni wo mmerɛbo mu no ho hwɛ? Bere a eyi yɛ asɛm a anibere wom no, ayaresa pa wɔ hɔ. Momma yɛnka eyi ho asɛm nkɔ akyiri, ɛnte saa?

Dɛn ankasa ne OTC a enni hɔ yi?

Sɛ yɛbɛka no tiawa a, OTC a enni hɔ no kyerɛ sɛ wo mmerɛbo ntumi nyɛ enzyme bi a wɔfrɛ no Ornithine Transcarbamylase (OTC) yiye. Saa OTC enzyme yi ho hia yiye efisɛ ɛboa ma awuduru bi a wɔfrɛ no ammonia fi yɛn mogya mu. Enti sɛ saa enzyme yi sua a, ammonia fi ase boaboa ano wɔ nipadua no mu. Eyi yɛ urea kyinhyia mu ɔhaw ankasa .

Afei ma yɛnhwɛ sɛnea eyi ba. Sɛ yedi protein a, mmoawa a wɔwɔ yɛn dwensɔtwaa mu no bubu protein no na wɔyɛ ammonia sɛ ade a wɔsɛe no. Afei yɛn mmerɛbo no fa saa ammonia yi na ɛdan no urea wɔ adeyɛ bi a wɔfrɛ no urea kyinhyia mu. Ɛno ne nea OTC enzyme no yɛ ma. Afei yɛn asaabo yi urea yi fi mogya no mu na yi fi mu sɛ nsu. So wote ase? Enti sɛ OTC kɔ a, saa adeyɛ yi nyinaa kɔ haywire.

Dɛn ne tebea yi ahorow atitiriw?

Wɔakyekyɛ OTC a enni nipadua mu no mu abiɛsa titiriw, a egyina bere a egye ansa na sɛnkyerɛnne ahorow no ada adi so:

• Neonatal type: Eyi ne ɔkwan a emu yɛ den sen biara. Nsɛnkyerɛnne no da adi wɔ awo nnafua 30 a edi kan no mu. Nkokoaa yi hia ayaresa ntɛm ara.
• Mfinimfini su: Eyi taa ka mmofra a wɔadi fi ɔsram biako kosi bɛyɛ mfe 16.
• Ɔkwan a efi ase akyiri yi: Eyi betumi aba wɔ mfe 16 akyi, ɛtɔ mmere bi a ɛkɔ akyiri kodu mfe 60. Eyi ne nea emu nyɛ den koraa wɔ ahorow abien a aka no mu.

Hena na ɛda adi kɛse sɛ obenya OTC a enni hɔ?

OTC a enni hɔ no yɛ yare a ɛntaa nsi koraa ankasa . Nanso, ɛno ne urea kyinhyia mu ɔhaw ahorow a abu so sen biara. Sɛnea nhwehwɛmufo kyerɛ no, ebetumi aka nnipa 14,000 biara mu biako anaa nnipa 80,000 biara mu biako wɔ wiase nyinaa. Nea ɛsen saa no, tebea yi ka mmarimaa mpɛn pii na ɛyɛ den .

Dɛn ne OTC a enni nipadua no mu ho sɛnkyerɛnne?

Ɛsono yare yi ho sɛnkyerɛnne a egyina bere a efi ase so. Wɔ mmofra a wɔawo wɔn foforo mu no, yare no ho sɛnkyerɛnne no mu yɛ den sen biara. Saa sɛnkyerɛnne ahorow yi taa ba bere a wɔadi aduan a protein wom akyi.

Nsɛnkyerɛnne a ɛwɔ nkokoaa a wɔawo wɔn foforo mu

Sɛ akokoaa bi wɔ saa tebea yi a, ebia wubehu nneɛma te sɛ eyi:

• Wɔpow sɛ wobedidi anaa wɔbɛnom, na wɔnnom nufusu.
• Ɔfe a wɔtaa fa.
• Ɔhaw kɛse, na osu bere nyinaa.
• Bere nyinaa te nka sɛ ɔda na nkwa nnim (`Lethargy`).
• Ebia akisikuru betumi aba.
• Nipadua a nkwa nnim, te sɛ ntama asinasin (`Hypotonia`).
• Mmerɛbo no betumi ahonhon na ayɛ kɛse (`Hepatomegaly`).

Susuw sɛnea ɛna bi besuro sɛ biribi a ɛte sɛɛ to akokoaa a wɔawo no foforo no ho hwɛ. Ɛno nti na ɛho hia kɛse sɛ wuhu saa sɛnkyerɛnne ahorow yi.

Nsɛnkyerɛnne a ɛwɔ mmofra a wɔadi fi ɔsram biako kosi mfe 16 mu

Mmofra a wɔadi boro ɔsram biako ne nea wonnii mfe 16 nso betumi anya yare no ho sɛnkyerɛnne a yɛaka ho asɛm wɔ atifi hɔ no. Nea ɛka ho no, ebia wubehu eyinom nso:

• Basabasayɛ, tebea a ɛma adwene mu yɛ basaa.
• Delirium, te sɛ nsusuwii hunu.
• Kari a wɔhwere ne sɛnea wontumi nnante yiye (`Ataxia`).

Nsɛnkyerɛnne a ɛwɔ mpanyimfo mu

Sɛ tebea yi ba ɔpanyin bi so a, sɛnkyerɛnne afoforo betumi aba, de aka sɛnkyerɛnne ahorow a ɛwɔ mmofra nkumaa a yɛadi kan aka ho asɛm no ho:

• Abofono.
• Tiyɛ te sɛ atiridiinini.
• Ɔkasa a ɛyɛ den, kasa a ɛyɛ mmerɛw (Dysarthria).
• Hallucinations yɛ nneɛma a enni hɔ a wohu anaa wote.
• Anisoadehu a ɛyɛ kusuu anaasɛ aniwa mu haw afoforo.

Dɛn nti na OTC a enni hɔ yi ba? Dɛn na ɛde ba?

OTC a enni hɔ yɛ awosu mu yare . Eyi kyerɛ sɛ nsakrae a ɛba yɛn DNA mu na ɛde ba. Ɛde besi nnɛ no, nhwehwɛmufo ahu nsakrae bɛyɛ 400 wɔ DNA mu a ebetumi de yare yi aba. Nanso, wɔ nsɛm bi mu (bɛyɛ ɔha biara mu nkyem 20) no, ebetumi nso afi DNA mu nsakrae a wontumi mfa nhwehwɛmu nhu.

Akwan titiriw abien na ɛwɔ hɔ a saa DNA (`DNA`) nsakrae yi betumi afa so aba:

• Agyapade: Akokoaa betumi anya DNA mu nsakrae yi afi ne maame hɔ. Sɛ ɛba saa a, abarimaa bi benya yare no. Sɛ abeawa bi yɛ obi a ɔsoa nneɛma a, ɛbɛka no. Eyi gu ahorow wɔ ɔman biara mu, nanso ɛtaa yɛ 36% kosi 80% wɔ nsɛm no mu.
• Noninherited (de novo) type: Wɔ eyi mu no, akokoaa no nnya DNA nsakrae no fi awo mu. Eyi kyerɛ sɛ nsakrae no bae kwa bere a na akokoaa no renyin wɔ ɛna no awotwaa mu no.

OTC a enni awo mu yɛ tebea a ɛne X wɔ abusuabɔ . Eyi kyerɛ sɛ mmea nkutoo na wɔde yare no kɔ na wonnya yare no nyinaa. Nanso, wɔda so ara tumi nya yare no ho sɛnkyerɛnne. Nhwehwɛmu ada no adi sɛ mmea a wɔde mmoawa no kɔ no mu 10% kosi 20% benya sɛnkyerɛnne ahorow wɔ wɔn asetra mu bere bi.

Nsɛnnennen bɛn na ebetumi aba esiane OTC a enni hɔ nti?

OTC a enni nipadua no mu no betumi ama ammonia adɔɔso wɔ mogya no mu. Saa ammonia dodow a ɛwɔ mogya mu yi (Hyperammonemia) yɛ awuduru ma amemene no . Eyi betumi ama obi anya amemene mu yare a ɛma nipadua no yɛ adwuma.Sɛ eyi mu yɛ den anaasɛ ɛkyɛ a, nsɛnnennen a emu yɛ den betumi aba, te sɛ:

• Adwene mu dɛmdi ne nkɔso a ɛkyɛ.
• Ntini mu yare te sɛ amemene mu yare.
• Sɛ obi bɛtɔ coma mu a, ɛkyerɛ sɛ wobɛhwere n’adwene.
• Nea ɛyɛ awerɛhow no, owu mpo betumi aba.

Saa nsɛnnennen yi taa ba, na emu yɛ den kɛse, wɔ mmofra a wɔawo wɔn foforo a OTC nnim no mu.

OTC a enni nipadua mu no betumi ayɛ asiane kɛse wɔ nyinsɛn mu. Nanso, wobetumi adi tebea no ho dwuma bere a wɔyem no na wɔanya akokoaa a ɔwɔ apɔwmuden. Sɛ wowɔ OTC a enni hɔ, anaasɛ obi wɔ w’abusua mu wɔ abakɔsɛm a ɛfa saa tebea yi ho a, ɛyɛ adwene pa sɛ wo ne wo awo ne mmea ho oduruyɛfo (`Ob/Gyn`) bɛkasa. Afei wobetumi ne nnuruyɛfo a wɔsa wo OTC a enni hɔ no ayɛ adwuma de ayɛ ɔhwɛ a wuhia no ho nhyehyɛe.

Ɔkwan bɛn so na nnuruyɛfo hu (hu) OTC a enni hɔ?

Wɔnam aduruyɛdan mu nhwehwɛmu so titiriw na ɛma wohu OTC a enni hɔ, titiriw mogya mu nhwehwɛmu ne nsu mu nhwehwɛmu. Mpɛn pii no, wotumi hu no ansa na wɔawo akokoaa denam DNA nhwehwɛmu so. Nanso, ɛwom mpo sɛ OTC a enni nipadua mu no yɛ awosu mu tebea de, nanso ebia nhwehwɛmu ahorow yi rentumi nhu DNA mu nsakrae a ebetumi de aba no nyinaa. Nea enti a ɛte saa ne sɛ nsakrae ahorow pii wɔ DNA mu a ebetumi de aba.

Ɛdenam ɔman a wote mu no mmara ne nhyehyɛe ahorow so no, ebia nhyehyɛe bi wɔ hɔ a wɔde bɛsɔ akokoaa biara a wɔawo no foforo ahwɛ sɛ ebia OTC nnim anaa. Wɔ mmeae a ɛtete saa no, hokwan a ɛwɔ hɔ sɛ wobehu yare no ntɛm no dɔɔso.

Nanso, wɔ mmeae a wonni nhwehwɛmu akwan a ɛte saa a wɔahyɛ da ayɛ no, ebetumi ayɛ den ama nnuruyɛfo a wɔn ho akokwaw mpo sɛ wobehu tebea no wɔ akokoaa no awo akyi. Nea enti a ɛte saa ne sɛ yare no ho sɛnkyerɛnne no mu nna hɔ koraa wɔ mfiase no na ebetumi ayɛ sɛ yare foforo biara de. Wɔ tebea horow a emu yɛ den sen biara mu no, ammonia awuduru betumi asɛe amemene no ansa na nnuruyɛfo ahu tebea no mpo.

Dɛn ne ayaresa ahorow a wɔde sa OTC a enni nipadua no mu?

Asɛmpa no ne sɛ ayaresa pa wɔ hɔ a wɔde sa OTC a enni nipadua no mu. Nsɛntitiriw kakraa bi wɔ hɔ a ɛsɛ sɛ ɛtra w’adwenem bere a woredi eyi ho dwuma no:

• Ammonia dodow a ɛwɔ mogya no mu a wɔbɛtew so: Wɔ tebea a egye ntɛmpɛ mu no, dialysis betumi ayi ammonia afi mogya no mu ntɛm.
• Akwan foforo a wɔfa so sa yare: Nnuru a wɔde yi nitrogen fi mu wɔ hɔ. Eyinom yɛ adwuma denam nitrogen a wɔkyere, wɔyɛ ho adwuma wɔ akwan foforo so, na esiw ammonia a ɛbɛba no ano so. Nhwɛsoɔ bi ne nnuru te sɛ Sodium Phenylacetate ne Sodium Benzoate.
• Nsakrae a ɛba aduan mu: Protein a wɔtew so na wɔhwɛ so ho hia na ama ammonia dodow a ɛwɔ mogya mu no akɔ so ayɛ nea ahobammɔ wom.Sɛ wobɛyɛ eyi a, ɛsɛ sɛ wode calories a wubenya afi carbohydrates (`carbs`) ne srade (`fats`) mu di kan.
• Nneɛma a Wɔde Ka Ho: Ɛsɛ sɛ wɔfa amino acid ahorow a ɛho hia a wontumi nnya mfi protein mu sɛ nnuru a wɔde ka ho.
• Monia mu ammonia dodow a wɔbɛhwɛ so: Mogya mu nhwehwɛmu a wɔyɛ no daa betumi aboa ma wɔahu ammonia dodow a ɛwɔ mogya no mu ansa na akɔ soro wɔ ɔkwan a ɛyɛ hu so.

Sɛ wohu OTC a enni hɔ ansa na wɔawo akokoaa no a, ebia wobetumi afi ase ayɛ akokoaa a ɔwɔ awotwaa no mu no yare. Sɛ wɔde nnuru foforo yi ma ɛna no bere tiaa bi ansa na wɔawo akokoaa no a, ebetumi aboa ma akokoaa no ammonia dodow akɔ so ayɛ nea ahobammɔ wom wɔ awo akyi.

So wobetumi asa OTC a enni hɔ koraa?

Yiw, ɔkwan bi wɔ hɔ a wɔfa so sa OTC a enni nipadua no mu. Ɛno yɛ mmerɛbo a wɔde ma obi foforo . Wɔ eyi mu no, woyi wo mmerɛbo a ɛyare no na wɔde mmerɛbo a ɛte apɔw si ananmu. Saa mmerɛbo no betumi ayɛ OTC enzyme no. Sɛ wɔde mmerɛbo foforo ma wie a, wubetumi adi aduan a ɛfata na ahoɔden wom na ɛho renhia sɛ wobɛnom nnuru a ɛtew ammonia so.

Nea ɛyɛ awerɛhow no, mmerɛbo a wɔde ma obi foforo ntaa mma saa yare yi esiane nneɛma ahorow nti. Afei nso, ɛsɛ sɛ nnipa a wɔama wɔn mmerɛbo foforo no nom nnuru a ɛma nipadua no tumi ko tia nyarewa wɔ wɔn nkwa nna nyinaa mu na amma wɔanpo akwaa a wɔde ahyɛ wɔn foforo no. Wo duruyɛfo betumi aka mmerɛbo a wɔde ma afoforo ne sɛnea ebetumi aka wo ho asɛm pii akyerɛ wo.

Mprempren wɔreyɛ awosu mu ayaresa a wɔde sa OTC a enni nipadua mu nso ho nhwehwɛmu. Ebia saa ayaresa yi bɛyɛ ɔkwan foforo a wɔbɛfa so de yare no asi mmerɛbo foforo ananmu daakye.

Dɛn na wubetumi ahwɛ kwan bere a wo ne OTC a enni hɔ te ase no?

Nea wubetumi ahwɛ kwan wɔ OTC a enni hɔ ho no gu ahorow gyina sɛnea tebea no mu yɛ den so. Dodow a tebea no mu yɛ den no, dodow no ara na protein kakraa bi na wubetumi adi dwoodwoo. Nnipa pii a wɔwɔ OTC a wonni no pɛ sɛ wodi afifide a wɔmfa afifide nni dwuma ansa na wɔahu mpo, efisɛ ɛyɛ mmerɛw ma wɔn. Wo duruyɛfo bɛkyerɛ wo protein dodow a wubetumi adi ne sɛnea wobɛhwɛ so.

Sɛ yɛka ne nyinaa bom a, OTC a enni hɔ a wubenya no betumi anya w’asetra so nkɛntɛnso kɛse. Ammonia dodow a ɛkɔ soro wɔ mogya mu no betumi ama asiane a ɛwɔ hɔ sɛ obenya nsɛnnennen te sɛ adwene mu dɛmdi no ayɛ kɛse. Ɛno nti na ɛho hia kɛse sɛ wobɛma ammonia dodow akɔ fam no.

Nanso, esiane sɛ wɔhwɛ so, wɔsa wɔn yare, na wodi aduan a protein kakraa bi na ɛwom nti, OTC a wonnya nni no yɛ tebea a wotumi di ho dwuma kɛse . Ɛho hia sɛ wohwɛ wo mogya mu ammonia dodow so daa na ama woahwɛ ahu sɛ ɛrenkɔ soro. Sɛ ammonia dodow a ɛwɔ wo mogya mu no kɔ soro a, ayaresa betumi aboa ma wɔatew so.

OTC a enni hɔ no di bere tenten ahe?

OTC a enni hɔ yɛ awo mu tebea , a ɛkyerɛ sɛ wɔde bi awo wo, na ɛtra hɔ nkwa nna nyinaa. Berɛbo a wɔde ma obi foforo nkutoo ne aduru a wobetumi anya.

Dɛn ne obi a ɔwɔ OTC a enni no daakye?

Nkɔmhyɛ a obi a ɔwɔ OTC nnim no gyina bere a edi kan a sɛnkyerɛnne ahorow no da adi so kɛse. 2020 nhwehwɛmu kyerɛ sɛ ayarefo a wɔba wɔ mfe a wɔadi mfe mfinimfini ne wɔn a wɔanyinyin mu no wɔ nkɔmhyɛ a eye. Wɔn a wowuwu no fi 8% kosi 13%.

Mpɛn pii no, mmofra a wɔawo wɔn foforo na wonya yare no mu yɛ den sen biara, na wɔn a wowuwu nso dɔɔso. Nanso, saa nnipa dodow a wowuwu no sua koraa mprempren sen mfe a atwam no. Nhwehwɛmu bi a wɔde mfeɛ aduasa yɛeɛ firi afe 1971 kɔsi afe 2011 kyerɛɛ sɛ mmofra a wɔawo wɔn foforɔ a wɔwuwu no yɛ 74%. Nanso, nhwehwɛmu bi a ɛdi akyire a wɔyɛeɛ firi afe 2001 kɔsi afe 2013 no kyerɛɛ sɛ nnipa dodoɔ a wɔwuwu no so atew akɔduru 43%. Eyi kyerɛ sɛnea nsonsonoe kɛse aba wɔ aduruyɛ ho nyansahu a ɛrenya nkɔso no mu.

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw OTC a enni hɔ ano?

Ɔkwan biara nni hɔ a wɔbɛfa so asiw OTC a enni hɔ no ano. Nanso, wubetumi anya awosu ho afotu ansa na woawo mma. Bere a eyi ntumi nsiw yare no ano no, ebetumi aboa wo ma woate hokwan a ɛwɔ hɔ sɛ wo mma benya bi afi awo mu no ase.

Bere bɛn na ɛsɛ sɛ wokɔ ayaresabea?

Sɛ wo anaa wo ba wɔ mogya mu ammonia a ɛdɔɔso (`ammonia`) ho sɛnkyerɛnne a, ɛsɛ sɛ wokɔ ayaresabea anaa baabi a wɔhwɛ wɔn a wɔwɔ yare a egye ntɛmpɛ ntɛm ara . Dodow a mogya mu ammonia (`ammonia`) kɔ so yɛ kɛse no, dodow no ara na asiane a ɛwɔ hɔ sɛ amemene no bɛsɛe daa no yɛ kɛse. Enti ɛnyɛ adwene pa sɛ wobɛtwentwɛn wo nan ase.

Nsɛmmisa a ɛho hia bɛn na ɛsɛ sɛ wubisa wo duruyɛfo?

Sɛ wokɔ wo duruyɛfo nkyɛn a, ɛbɛyɛ papa sɛ wubebisa nsɛm bi te sɛ eyinom:

• So awosu mu nsakrae bi a wɔahu mprempren na ɛde OTC a minni no ba?
• So ɛsɛ sɛ wɔyɛ m’abusua mufo afoforo biara nhwehwɛmu sɛ ebia OTC nni wɔn mu anaa?
• Protein dodow ahe na metumi anom da koro?
• Ayaresa bɛn na mihia?
• Nnuru bɛn na ɛsɛ sɛ menom?
• Dɛn ne sɛnkyerɛnne ahorow a ɛhwehwɛ sɛ wɔsa yare ntɛm ara?

Nea etwa to no, nneɛma kakraa bi a ɛsɛ sɛ yɛma ɛtra yɛn adwenem

Sɛ́ ebia yare yi ka wo anaa wo ba no, ɛyɛ ade a ɛfata sɛ wubenya nkate ahorow bere a wuhu sɛ eyi yɛ awosu mu tebea a ɛba wo nkwa nna nyinaa mu no. Ebia wobɛte ehu, dadwen, ne abufuw nka. Nkate horow yi nyinaa yɛ nea ntease wom.

Nanso ɛsɛ sɛ wokae sɛ, OTC a enni hɔ no nyɛ wo mfomso , na mpɛn pii no nneɛma a wuntumi nni so na ɛde ba.

Ɛwom sɛ OTC a enni nipadua no mu yɛ tebea a emu yɛ den de, nanso nkɔso a aba wɔ aduruyɛ ho nyansahu mu no ama wɔatumi asa no kɛse sen sɛnea na ɛte mfe du du kakraa bi a atwam ni no. Sɛ wɔhwɛ tebea no so daa na wɔsa yare a, wobetumi adi tebea no ho dwuma kɛse. Adanse a ɛrenya nkɔanim nso wɔ hɔ a ɛkyerɛ sɛ mmerɛbo a wɔde ma obi foforo betumi asa yare no. Sɛ wowɔ nsɛmmisa biara anaasɛ wuhia mmoa wɔ kwan so a, mma wo werɛ mmfi sɛ wode wo ho bɛto w’aduruyɛfo kuw no so. Wɔwɔ hɔ bere nyinaa sɛ wɔbɛkyerɛ wo kwan na wɔaboa wo.

` OTC a enni hɔ, ammonia, mmerɛbo, urea kyinhyia, awosu mu nyarewa, protein, mmofra nyarewa