So ɔhaw bi wɔ wo nipadua a ɛma awuduru fi nipadua mu no mu? Momma yensua Urea Cycle Disorder ho ade!

Yɛn nyinaa nim sɛ yɛn nipadua nya aduannuru a ehia fi aduan a yedi mu. Afei nso, wɔ saa adeyɛ yi mu no, yɛn nipadua no yɛ nneɛma a yɛmpɛ, na ɛtɔ mmere bi a awuduru wom. Enti, yɛn nipadua wɔ nhyehyɛe a ɛyɛ nwonwa yiye a ɛde yi awuduru a yɛmpɛ yi fi mu na ɛde nneɛma pa no kɔ nipadua no nyinaa mu. Nanso, sɛ mmerɛwyɛ bi wɔ saa ‘filter’ nhyehyɛe yi mu a, dɛn na ɛba? Ɛno ne nsɛm a ɛho hia a yɛrebɛka ho asɛm nnɛ no mu biako.

Dɛn ne Urea Kyinhyia no? Momma yɛnte ase wɔ ɔkwan a ɛnyɛ den koraa so!

Susuw urea kyinhyia no ho sɛ afiri a wɔde yi awuduru fi yɛn nipadua mu. Ɛboa ma yeyi nneɛma a epira fi yɛn nipadua mu na ɛde nneɛma a mfaso wɔ so kɔ nipadua no mu nyinaa.

Saa adeyɛ yi fi ase bere a yɛadi awie no. Protein a ɛwɔ nnuan a yedi mu no mu paapae wɔ yɛn nipadua mu ma ɛbɛyɛ amino acid . Saa amino acid ahorow yi ne protein ahorow no mu nneɛma atitiriw. Sɛnea birikisi ho hia na wɔde asi ɔdan no, saa ara na saa amino acid ahorow yi ho hia na ama ntini ahorow akyekye, aduannuru a wɔde kɔ baabi foforo, na akwaa ahorow no akɔ so ayɛ adwuma yiye.

Afei, sɛ wɔyam protein yi a, mframa bi a wɔfrɛ no ammonia ba sɛ ade a wɔsɛe no. Saa ammonia yi yɛ awuduru kɛse ma yɛn nipadua. Enti, sɛnea ɛbɛyɛ a yebeyi ammonia a awuduru wom yi afi hɔ no, enzymes a ɛwɔ yɛn nipadua mu - kyerɛ sɛ, protein soronko a ɛyɛ nnuru a ɛyɛ adwuma - dan saa ammonia yi ma ɛbɛyɛ ade a asiane biara nni ho a wɔfrɛ no urea wɔ mmerɛbo mu. Amino acid afoforo pii ka ammonia ho wɔ urea yi mu:

• Arginine a wɔde yɛ aduru
• Ornithine a wɔde yɛ aduru
• Citrulline a wɔde yɛ aduru

Afei, saa enzymes yi de urea fa mogya no mu kɔ asaabo no mu. Anamɔn a etwa to wɔ urea kyinhyia no mu ne sɛ yebeyi urea yi afi yɛn nsu mu. Saa na urea kyinhyia no yɛ adwuma, wɔ nsɛm a ɛnyɛ den mu.

Enti, dɛn ne urea kyinhyia mu ɔhaw?

Urea Cycle Disorder (UCD) yɛ tebea horow kuw bi a adeyɛ a ɛde urea kɔ nipadua no mu nyinaa, sɛnea yɛadi kan aka ho asɛm no, nyɛ adwuma yiye. Mpɛn pii no , protein anaa enzyme bi a ehia ma saa adeyɛ no a enni hɔ anaasɛ enni hɔ na ɛde eyi ba.

Eyi yɛ awosu mu tebea , a ɛkyerɛ sɛ ɛyɛ biribi a ɛwɔ hɔ fi awo mu. Nnuruyɛfo frɛ no Mfomso a Wɔwoo no a Ɛfa Nneɛma a Ɛma Nneɛma Yɛ Fɛ Ho . Eyi ma ammonia a awuduru wom no boaboa ano wɔ yɛn mogya mu. Wɔfrɛ eyi Hyperammonemia . Saa tebea yi nya yɛn nipadua so nkɛntɛnso bɔne kɛse, titiriw amemene ne akwaa afoforo .

So urea kyinhyia mu ɔhaw ahorow bi wɔ hɔ?

Yiw, urea kyinhyia mu ɔhaw ahorow awotwe na wonim. Wɔn mu biara fi enzyme anaa protein pɔtee bi a ɛho hia ma urea kyinhyia no a enni hɔ:

• N-acetylglutamate synthase (NAGS) a enni nipadua mu
• Carbamoylphosphate synthetase I (CPS1) a enni nipadua mu
• Ornithine transcarbamylase (OTC) a enni nipadua mu
• Argininosuccinate synthase 1 (ASS1) a enni nipadua mu anaasɛ Citrullinemia type I
• Citrin a enni nipadua mu anaasɛ Citrullinemia type II
• Argininosuccinic lyase (ASL) a enni nipadua mu
• Arginase (ARG) a enni nipadua mu
• Ornithine translocase a enni nipadua mu

Bere a eyi betumi ayɛ te sɛ nea nyansahu mu de kakra no, nea eyinom mu biara kyerɛ ne sɛ ɔhaw bi wɔ anammɔn pɔtee bi mu wɔ urea kyinhyia no mu.

Henanom na wobetumi anya saa tebea yi?

Eyi yɛ awosu mu tebea a ebetumi aka obiara. Wobetumi de Universal Newborn Screening Blood Tests ahu mmofra a wɔawo wɔn foforo, a wɔyɛ no wɔ nna kakraa bi akyi wɔ awo akyi. Nanso, ɛtɔ mmere bi a, sɛnkyerɛnne ahorow no da adi akyiri yi wɔ asetra mu. Sɛ ɛba saa a, wobetumi ahu sɛ mpanyimfo nso anya yare no.

So eyi yɛ biribi a efi awo ntoatoaso ahorow mu?

Yiw, urea kyinhyia a enni hɔ no yɛ tebea a wonya fi awo mu . Mpɛn pii no, sɛ wubenya saa tebea yi a, ɛsɛ sɛ wunya awosu mu nsakrae bi fi wo maame ne wo papa nyinaa hɔ. Wɔfrɛ eyi sɛ autosomal recessive transmission. Wɔde ahorow bi ma wo mma bere a wɔanyinsɛn akyi, na ɛne ɔbarima ne ɔbea nna mu nkwaadɔm bi wɔ abusuabɔ. Wɔfrɛ eyi sɛ X-linked transmission.

Tebea yi abu so dɛn?

Wɔ United States no, wobu akontaa sɛ saa tebea yi ka nnipa bɛyɛ 35,000 biara mu biako. Ɛwom sɛ akontaabu pɔtee biara nni Sri Lanka de, nanso wobu eyi sɛ tebea a ɛntaa nsi.

Dɛn ne urea cycle a enni nipadua no mu ho sɛnkyerɛnne?

Mpɛn pii no, wohu tebea yi ho sɛnkyerɛnne a edi kan wɔ awo mu. Nanso, saa sɛnkyerɛnne ahorow yi betumi ada adi wɔ mfe biara mu. Hwɛ sɛ saa sɛnkyerɛnne ahorow yi te sɛ nea wunim anaa:

• Dae a obi da, ɔbrɛ a ɛtra so (Lethargy) .
• Nkokoaa a wɔtaa su na wɔn ho ntɔ wɔn (Fussiness in babies) .
• Akisikuru anaa ɔfe
• Ontumi nnidi anaasɛ ontumi mma aduan
• Ahome a wɔhome ntɛmntɛm dodo anaasɛ ɛyɛ brɛoo dodo
• Adwene a ɛyɛ basaa, adwene a ɛyera

Saa sɛnkyerɛnne ahorow yi fi ammonia dodow a ɛkɔ soro wɔ mogya no mu (Hyperammonemia). Saa sɛnkyerɛnne ahorow yi betumi afi nea emu nyɛ den so kosi nea emu yɛ den so . Ebia wubehu nneɛma te sɛ:

• Ɔhaw ahorow a ɛfa adwene mu nkɔso ne adwene mu nsɛnnennen ho
• Suban mu nsakrae
• Nkɔsoɔ a ɛkyɛ - Wei kyerɛ sɛ abofra no nkɔsoɔ mfata ne mfeɛ.
• Nsu a ɛboaboa ano wɔ amemene no ho (Cerebral Edema) .
• Ntini a ɛyɛ den, ɛtwetwe (Spasticity) .
• Epileptic tebea horow, akisikuru
• Tebea a ɛma obi nhu hwee, coma

Nea ɛho hia: Nsɛnkyerɛnne a ɛka amemene no betumi de wo nkwa ato asiane mu, enti sɛ wowɔ saa sɛnkyerɛnne ahorow yi a, ɛho hia sɛ wohwehwɛ aduruyɛfo afotu ntɛm ara.

Dɛn nti na ɛte saa?

Sɛnea yɛadi kan aka no, awosu mu nsakrae bi na ɛde urea kyinhyia a enni hɔ ba . Nneɛma ahorow a yɛadi kan aka ho asɛm no mu biara fi awosu mu nsakrae soronko bi:

• N-acetylglutamate synthase a enni hɔ: nsakrae a ɛba NAGS awosu mu abɔde mu.
• Carbamoylphosphate synthetase I a enni hɔ: nkwaadɔm mu nsakrae a ɛba CPS1 awosu mu abɔde mu.
• Ornithine transcarbamylase a enni nipadua mu: nkwaadɔm mu nsakrae a ɛba OTC awosu mu abɔde mu.
• Argininosuccinate synthase 1 a enni hɔ: nkwaadɔm mu nsakrae a ɛba ASS1 awosu mu abɔde mu.
• Citrin a enni nipadua mu: Nsakrae bi a ɛba SLC25A13 awosu mu abɔde mu.
• Argininosuccinic lyase a enni nipadua mu: nkwaadɔm mu nsakrae a ɛba ASL awosu mu abɔde mu.
• Arginase a enni nipadua mu: Nsakrae bi a ɛba ARG awosu mu abɔde mu.
• Ornithine translocase a enni hɔ: nkwaadɔm mu nsakrae a ɛba SLC25A15 awosu mu abɔde mu.

Saa awosu mu nkwaadɔm yi na ɛyɛ protein ne enzyme ahorow a ehia na wɔde urea akɔ nipadua no mu nyinaa. Sɛ awosu mu nsakrae bi ba a, nipadua no ntumi nyɛ protein anaa enzyme ahorow yi a ɛdɔɔso. Afei, nipadua no ntumi nyi ammonia a awuduru wom a ɛboaboa ano wɔ mogya no mu na ɛde sɛnkyerɛnne ahorow ba no mfi hɔ.

Ɔkwan bɛn so na wohu tebea yi?

Wo duruyɛfo bedi kan abisa wo yare no ho sɛnkyerɛnne, ayɛ wo nipadua mu nhwehwɛmu, na wayɛ aduruyɛ ho abakɔsɛm a edi mũ. Afei, wobetumi ahyɛ sɛ wɔnyɛ mogya anaa nsu mu nhwehwɛmu na ama wɔahu tebea no.

Sɔhwɛ ahorow bɛn na wɔreyɛ ama eyi?

• Amino acid ho nsɛm anaa nhwehwɛmu: Wo mogya anaa wo nsu mu nhwɛsode kyerɛ amino acid dodow a ɛwɔ wo nipadua mu.
• Berɛbo mu Nhwehwɛmu: Wɔfa mmerɛbo no fã ketewaa bi na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu hwɛ sɛ ebia enzyme ahorow bi wɔ abusuabɔ a ɛne tebea yi wɔ abusuabɔ ne sɛnea ɛyɛ adwuma anaa.
• Awosu mu Nhwehwɛmu: Wɔfa mogya de hwɛ sɛ awosu mu nsakrae bi a ebia ɛde wo yare no ho sɛnkyerɛnne no reba anaa.

Ɔkwan bɛn so na wɔsa eyi?

Botae titiriw a ɛwɔ urea kyinhyia mu haw ahorow a wɔsa mu ne sɛ wɔbɛtew ammonia dodow a ɛwɔ mogya no mu no so. Wobetumi ayɛ eyi denam:

• Aduan a protein kakraa bi na ɛwom a wobedi.
• Dialysis: Adeyɛ a wɔde yi awuduru fi mogya no mu. Wɔsan frɛ eyi hemodialysis .
• Nnuru a wɔde di dwuma: Nnuru te sɛ Sodium Phenylacetate ne Sodium Benzoate (e.g. Ammonul® ) boa ma woyi ammonia fi mogya no mu.
• Amino Acid Nnuru a Wɔde Ma a Wɔnom: Nnuru a Wɔde Ka Ho Te sɛ Arginine anaa Citrulline boa nipadua no ma wowie urea kyinhyia no.

Wɔ hyperammonemia a emu yɛ den yiye mu no, ebia ɛho behia sɛ wɔde mmerɛbo foforo ma.

Ansa na wubefi ayaresa ase no, wo ne wo duruyɛfo nkasa mfa nnuru ne akwan foforo a wɔfa so yɛ no ho nsunsuanso bɔne a ɛba no ho. Afei nso, ka nnuru foforo biara anaa nnuru a wɔde ka ho a worenom mprempren ho asɛm kyerɛ wo duruyɛfo. Eyi betumi aboa wo ma woakwati nsunsuanso bɔne a wompɛ.

Sɛ wowɔ urea cycle disorder a, nnuan bɛn na ɛsɛ sɛ wokwati?

Aduan a protein nnim ne ɔkwan a eye sen biara a wɔfa so di tebea yi ho dwuma. Nea enti a ɛte saa ne sɛ, sɛ protein a ɛwɔ aduan a yedi mu no mu paapae a, amino acid ahorow ba, na afei ɛma ammonia ba. Obi a ɔwɔ urea kyinhyia mu yare no ntumi nyi saa ammonia yi mfi awosu mu. Enti, sɛ wodi aduan a protein nnim a, ebetumi atew asiane a ɛwɔ hɔ sɛ ammonia bɛboaboa ano wɔ mogya no mu no so.

Nnuan atitiriw a protein pii wom a ɛsɛ sɛ woto ano hye wɔ w’aduan mu ni:

• Nsunam
• Akokɔ
• Nkwaa a wɔde yɛ nkesua
• Nantwinam
• Bean ahorow ahorow
• Tofu anaa nnuan a soya wom

Nanso, esiane sɛ protein ho hia ma yɛn nipadua nti, sɛ yetwa fi mu koraa a, ebetumi de ɔhaw ahorow aba, te sɛ nyin a ɛnyɛ den. Enti, ebia wo duruyɛfo de wo bɛkɔ aduan ho ɔbenfo anaa aduannuru ho ɔbenfo nkyɛn . Wobetumi aboa wo ma woadi protein dodow a wudi so. Ɛtɔ mmere bi a, ebia wo duruyɛfo nso bɛkamfo akyerɛ sɛ fa vitamin, mineral, anaa amino acid a wɔde ma na aboa ma woadi aduannuru a enni nipadua mu a protein anohyeto de ba no ho dwuma.

So wobetumi ama akokoaa a wɔawo no foforo nufu sɛ ɔwɔ saa tebea yi a?

Wo ba nya protein fi nufusu mu. Ɛwom sɛ wubetumi ama nufu de, nanso wo duruyɛfo bɛtaa ahwɛ sɛnea ɛka wo ba no. Sɛ ɛho hia sɛ wotew protein a wo ba no di so a, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ woma wo ba no nkokoaa aduan titiriw bi sen sɛ wode nufusu bɛma no.

So wobetumi asiw tebea yi ano?

Eyi yɛ awosu mu tebea na wontumi nsiw ano. Sɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn na wopɛ sɛ wuhu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu yare bi a, wo ne wo duruyɛfo nka awosu mu afotu ho asɛm .

Anidaso bɛn na obi a ɔwɔ urea cycle disorder betumi anya?

Sɛ wo duruyɛfo hu saa tebea yi ara pɛ a, obefi ase ayɛ ayaresa de atew ammonia dodow a ɛwɔ mogya no mu no so. Wɔ mmofra a wɔawo wɔn foforo fam no, wobefi ase ayɛ ayaresa wɔ awo akyi pɛɛ na wɔasiw nsɛnnennen ano. Sɛ wofi ase sa yare wie a, oduruyɛfo no bɛhwɛ ammonia dodow a ɛwɔ mogya mu no so kosi sɛ ɛbɛsan akɔ dodow a ahobammɔ wom.

Saa tebea yi hwehwɛ sɛ wɔhwɛ so wɔ wɔn nkwa nna nyinaa mu na wodi aduan titiriw a protein kakraa bi na ɛwom . Protein pii a wodi no betumi ama yare no ho sɛnkyerɛnne asan aba bio.

Sɛ hyperammonemia mu yɛ den a, ebetumi ama amemene no asɛe a wontumi nsakra, akɔ koma mu, anaa owu mpo. Enti, wo ne wo duruyɛfo nkasa mfa sɛnea wubedi wo tebea anaa wo ba no tebea ho dwuma na woakwati ɔhaw ahorow a ɛde ne nkwa to asiane mu yi.

Dɛn ne nkɔmhyɛ a ɛkyerɛ sɛ obi ho bɛtɔ no wɔ tebea yi mu?

W’adwene gyina sɛnea wo sɛnkyerɛnne ahorow no mu yɛ den so. Sɛ wohu ntɛm, wɔsa wo yare, na wodi ho dwuma wɔ w’asetra nyinaa mu a, wo nkwa nna betumi ayɛ nea ɛfata. Nanso, sɛ wɔansa anaasɛ wɔanhu a, ebetumi akum obi.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wowɔ saa tebea yi ho sɛnkyerɛnne, titiriw sɛ wote nka sɛ woabrɛ paa anaasɛ wuntumi nnidi a , kɔ oduruyɛfo nkyɛn.

Bere a wo ba no nyin no, ɛho hia sɛ wohwɛ sɛ ɔredu ne nkɔso mu nsɛntitiriw ho anaa . Ɛne sɛ, sɛ ɔreyɛ nneɛma a ɛfata mfe a wadi a. Sɛ ɛnte saa a, kɔ oduruyɛfo nkyɛn.

Sɛ wo anaa wo ba no nya akisikuru anaasɛ ɛyɛ den sɛ ɔbɛhome a, kɔ ayaresabea dan a wɔhwɛ wɔn a wɔwɔ ayaresa a egye ntɛmpɛ mu ntɛm ara.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

• Mɛyɛ dɛn adi me ba no tebea ho dwuma?
• So ɛsɛ sɛ mekɔ obi a onim aduannuru ho ɔbenfo nkyɛn?
• Dɛn ne ayaresa no mu nsunsuanso bɔne?
• Nnuan bɛn na ɛsɛ sɛ miyi fi hɔ?

Ɛyɛ ade a ɛfata sɛ wobɛte dadwen nka bere a wuhu sɛ wo anaa wo ba no wɔ awosu mu tebea a ɛntaa nsi yi. Wo duruyɛfo betumi aboa wo ma woadi tebea no ho dwuma. Sɛ wudi aduan a protein nnim a, wubetumi atew ɔkwan a tebea no fa so ka wo nipadua no so. Eyi betumi aboa ma yare no ho sɛnkyerɛnne so atew na aboa ma wo ho atɔ wo. Sɛ wote nka sɛ woabrɛ bere nyinaa, ɛyɛ wo haw wɔ adidi mu, anaa nsakrae soronko bi ba wo suban mu a, hwɛ hu sɛ wobɛkɔ oduruyɛfo nkyɛn.

Nneɛma a ɛho hia a ɛsɛ sɛ wokae (Take-Home Message) .

Okay, enti yɛaka Urea Cycle Disorder ho asɛm pii. Sɛ yɛbɛbɔ no mua a, nneɛma kakraa bi a ɛsɛ sɛ yɛma ɛtra yɛn adwenem ni:

• Eyi yɛ awosu mu tebea: ɛkyerɛ sɛ ɛyɛ biribi a wɔde awo wo. Nea ɛkɔ so wɔ ha ne sɛ yɛn nipadua ntumi nyi awuduru bi a wɔfrɛ no ammonia mfi hɔ yiye.
• Ɛho hia yiye sɛ wuhu ntɛm:Titiriw ma nkokoaa a wɔawo wɔn foforo. Sɛ wuhu sɛnkyerɛnne ahorow a, hwehwɛ aduruyɛfo afotu ntɛm ara.
• Ayaresa ahorow bi wɔ hɔ: Ade titiriw ne sɛ wobɛhwɛ ammonia dodow a ɛwɔ mogya no mu so. Wobetumi de aduan a protein nnim, nnuru, ne ayaresa afoforo ayɛ eyi.
• Nkwa nna nyinaa sohwɛ ho hia: Sɛ wɔhwɛ so yiye a, nnipa dodow no ara betumi atra ase sɛnea ɛsɛ.
• Di aduruyɛ mu afotu akyi: Ɛho hia yiye ma w’akwahosan sɛ wudi afotu a wo duruyɛfo ne aduannuru ho ɔbenfo de ma no akyi pɛpɛɛpɛ.

Mma wo ho nnyɛ wo hu. Ade a ɛho hia sen biara ne sɛ wubehu saa tebea yi na woanya aduruyɛ mu mmoa a ɛfata. Sɛ wowɔ nsɛmmisa foforo biara a, nsuro sɛ wo ne wo duruyɛfo bɛkasa.

` Urea kyinhyia, ammonia, awosu mu nyarewa, protein a ɛsakra, hyperammonemia, mmofra nyarewa, nipadua mu nneɛma a ɛsakra