So wo ba no hua te sɛ maple syrup? Momma yensua yare a ɛyɛ hu yi ho ade (Maple Syrup Urine Disease) .

So wo ba a wɔawo no foforo no nipadua anaa ne nsu hua yɛ dɛ a ɛyɛ nwonwa te sɛ maple syrup? Ebia wubesusuw sɛ ɛyɛ ade a ɛfata. Nanso ebetumi ayɛ tebea bi a emu yɛ den a ɛnsɛ sɛ wobu ani gu so da na egye ayaresa ntɛm ara ho sɛnkyerɛnne. Wɔfrɛ saa tebea yi maple syrup urine disease, anaa MSUD tiawa. Ɛnnɛ, yɛbɛka ho asɛm wɔ ɔkwan a ɛnyɛ den na ɛnyɛ den sɛ yɛbɛte ase so.

Dɛn ankasa ne maple syrup urine disease (MSUD)?

Sɛ yɛbɛka no tiawa a, Maple Syrup Urine Disease (MSUD) yɛ awosu mu yare a ɛwɔ awo mu, ɛtra hɔ nkwa nna nyinaa, na sɛ wɔansa no yiye a, ebetumi de nkwa ato asiane mu. Ɛyɛ nipadua mu nneɛma a ɛsakra no mu yare. Ebia nipadua mu nneɛma a ɛsakra no bɛyɛ te sɛ nea ɛyɛ den ma wo. Nanso ɛyɛ mmerɛw yiye. Ɛkyerɛ sɛ ɔhaw bi wɔ ɔkwan a yɛn nipadua no fa so dan aduan a yedi no ma ɛbɛyɛ ahoɔden no mu.

Wɔ MSUD mu no, yɛn nipadua ntumi nsɛe amino acid ahorow bi, protein a ɛkyekyere no yiye, na ɛnsakra no ma ɛnyɛ ahoɔden. Saa ɔhaw yi ba wɔ amino acid abiɛsa titiriw ho:

• Leucine a wɔfrɛ no leucine
• Isoleucine a wɔde yɛ aduru
• Valine na ɔkyerɛwee

Wɔ nnipa a wɔwoo wɔn a wɔwɔ MSUD mu no, saa amino acid abiɛsa yi nsɛe yiye wɔ nipadua no mu, enti ɛboaboa ano wɔ nipadua no mu ma ɛyɛ awuduru . Saa awuduru tebea yi ne yare no ho sɛnkyerɛnne titiriw, a ɛne maple syrup anaa asikre a wɔahyew hua a ɛwɔ nsu mu , aso mu nsu, ne fifiri mu.

Dɛn ne MSUD ahorow atitiriw?

Wobetumi akyekyɛ MSUD mu ayɛ no ahorow atitiriw anan. Ɛnyɛ ahorow nyinaa na ɛyɛ pɛ. Ebinom mu yɛ den paa, na ebinom nso mu nyɛ den kakra.

So yare yi abu so?

Dabi MSUD yɛ yare a ɛntaa nsi koraa . Wɔ wiase nyinaa no, ɛka nkokoaa 185,000 biara mu bɛyɛ biako pɛ.

Nanso, saa yare yi abu so kɛse wɔ mmusuakuw bi mu. Eyi abu so titiriw wɔ nnipa a wofi abusua anaa abusua biako mu, kyerɛ sɛ, nnipa a wɔware abusuafo a wɔbɛn wɔn no mu. Nea enti a ɛte saa ne sɛ awosu mu abɔde a ɛde yare yi ba no abu so kɛse wɔ saa nkurow no mu.

Dɛn ne MSUD ho sɛnkyerɛnne ahorow? Ɔkwan bɛn so na wobehu tebea a egye ntɛmpɛ?

Ɛho hia paa sɛ wuhu sɛnkyerɛnne ahorow no efisɛ ɛboa ma wofi ayaresa ase ntɛm.

Fa no sɛ ɛna bi a ɔwɔ akokoaa a wɔawo no foforo a ohu hua bi a ɛyɛ nwonwa na ɛyɛ dɛ bere a ɔresesa ne ba no mpaboa anaasɛ ɔrebɔ no atuu no. Mfiase no, ebia woremfa w’adwene nsi so. Nanso nna abien anaa abiɛsa akyi no, akokoaa no ntumi nnom nufusu mpo, osu bere nyinaa, na ɛte sɛ nea wabrɛ. Eyi ne bere a ɛsɛ sɛ wususuw ntɛm ara sɛ eyi nyɛ ade a ɛfata.

Sɛ wɔansa tebea yi a, ebetumi akɔ anim akodu nipadua mu nneɛma a ɛsakra mu, tebea a egye ntɛmpɛ a asiane wom kɛse.

Wɔ mmofra ne mpanyimfo a wɔahu sɛ wɔwɔ MSUD mpo mu no, biribi te sɛ ɔyare mmoawa, akwanhyia, anaa adwennwen a emu yɛ den betumi afi nipadua mu nneɛma a ɛsakra no mu ɔhaw a ɛte sɛɛ aba. Enti ɛho hia sɛ wohu eyi bere nyinaa.

Dɛn nti na saa yare yi ba?

MSUD fi awosu mu nsakrae , a wonya fi awofo hɔ kɔ mmofra hɔ.

Sɛ yɛbɛka no tiawa a, yɛn nipadua hia enzyme soronko bi na ama atumi abubu amino acid a yɛadi kan aka ho asɛm no: leucine, isoleucine, ne valine. Yɛn awosu mu nkwaadɔm kyerɛ yɛn sɛ yɛnyɛ saa enzyme ahorow yi.

Obi a ɔwɔ MSUD wɔ nkwaadɔm mu nsakrae, anaa sintɔ bi wɔ saa awosu mu nkwaadɔm yi mu a ɛde akwankyerɛ ma. Eyi ma:

• Ebia wɔrennyɛ enzyme a ɛfa ho no koraa wɔ nipadua no mu.
• Anaasɛ, ebia wɔrentumi nyɛ enzyme ahorow a ɛdɔɔso .
• Ɛtɔ mmere bi a, ɛwom mpo sɛ wɔyɛ enzymes de, nanso ebia ɛnyɛ adwuma yiye .

Ɛmfa ho nea enti a ɛte saa no, nea awiei koraa no ɛba ne sɛ saa amino acid abiɛsa no boaboa ano wɔ nipadua no mu na ɛkɔ awuduru dodow mu.

Ɔkwan bɛn so na wonya yare yi fi awo mu?

Eyi fi awo mu wɔ autosomal recessive nhyehyɛe mu . Eyi te sɛ asɛmfua a ɛyɛ den, ɛnte saa? Momma yɛmma ɛnyɛ mmerɛw.

Sɛ abofra betumi anya saa yare yi a, ɛsɛ sɛ ɛna no ne agya no nyinaa yɛ awosu mu abɔde a asɛe no kurafo . Ɔdefo kyerɛ sɛ onipa no wɔ awosu mu abɔde no bi a eye ne nea ɛnteɛ nyinaa wɔ ne nipadua mu. Wɔn a wɔde yare no kɔ no nnya saa yare yi. Nea enti a ɛte saa ne sɛ awosu mu abɔde no mfonini pa no ma enzyme a ɛho hia no yɛ.

Nanso, sɛ awofo baanu no nyinaa yɛ awofo a, abofra no betumi anya awosu mu abɔde a asɛe no afi ɛna no ne agya no nyinaa hɔ. Sɛ wonya awosu mu nkwaadɔm abien a asɛe abien no nyinaa fi awo mu nkutoo na abofra no benya MSUD.

Dɛn ne nsɛnnennen a ebetumi afi yare yi mu aba?

Awuduru a ɛboaboa ano wɔ nipadua no mu no betumi asɛe yɛn akwaa ahorow pii. Sɛ wɔansa anaasɛ wɔanhwɛ so yiye a, nsɛnnennen a edidi so yi betumi aba:

• Amemene a ɛsɛe , ntini mu haw, ne nkɔso a ɛkyɛ.
• Asiane a ɛkɔ soro sɛ wobenya adwenemyare te sɛ adwene a wɔde si biribi so dodo (ADHD), dadwen, ne adwenemhaw.
• Nnompe mu duru a ɛso tew ( osteoporosis ), a ebetumi ama nnompe abubu ntɛmntɛm.
• Pancreas no mu ɔfe ( pancreatitis ), titiriw bere a nipadua mu nneɛma a ɛsakra no ho haw bi wɔ hɔ no.
• Tiyɛ a enni sabea a nhyɛso a ɛkɔ soro wɔ ti nhwi no mu de ba.
• Kankyee mu haw te sɛ wosow ne ntini a ɛtwetwe a wontumi nni so.
• Coma ne owu mpo betumi aba esiane ɔyare mmoawa, adwennwen, anaa aduan pa a wonni nti.

Ɔkwan bɛn so na wobetumi ahu yare no? (Nyare a Wɔahu) .

Wɔtaa hu classic MSUD bere a wɔreyɛ mmofra a wɔawo wɔn foforo nhwehwɛmu, a ɛyɛ mogya mu nhwehwɛmu no.

Bio nso, wobetumi ayɛ nhwehwɛmu wɔ nyinsɛn mu de ahu sɛ akokoaa no wɔ yare no anaa. Wobetumi ayɛ eyi denam awotwaa no mu nsu ketewaa bi a wɔbɛfa ( chorionic villus sampling ) anaasɛ wɔasɔ awotwaa mu nsu a atwa akokoaa no ho ahyia no ahwɛ ( amniocentesis ).

Ebia mmofra a wɔwɔ MSUD ahorow afoforo renkyerɛ yare no ho sɛnkyerɛnne wɔ wɔn mmofraase. Ebia yare no ho sɛnkyerɛnne no renna adi kosi mfe pii akyi. Saa bere no, oduruyɛfo no nam mogya mu nhwehwɛmu ne awosu mu nhwehwɛmu so besi yare no so dua . Afei nso, hua soronko a ɛyɛ dɛ a efi abofra no nipadua mu ba no yɛ ade kɛse a ɛkyerɛ yare no.

Dɛn ne ayaresa ahorow a wɔde sa MSUD?

Ɛwom sɛ wonni MSUD aduru biara de, nanso wobetumi adi ho dwuma yiye na wɔanya asetra a ɛfata. Ayaresa no wɔ botae atitiriw abien:

1. Saa amino acid abiɛsa no dodow a ɛwɔ nipadua no mu a wɔbɛhwɛ so.

2. Fa ayaresa a egye ntɛmpɛ ma sɛ nipadua mu nneɛma a ɛsakra no mu haw bi ba a.

1. Aduan a wodi

Eyi ne ade a ɛho hia sen biara wɔ MSUD a wɔhwɛ so no mu. Ɛsɛ sɛ ɔyarefo no di aduan a ɛyɛ katee paa akyi wɔ ne nkwa nna nyinaa mu. Ɛno kyerɛ sɛ wɔbɛto nnuan a protein pii wom ano hye. Efisɛ saa amino acid abiɛsa a ɛde ɔhaw ba no wɔ protein mu.

Wɔma akokoaa a wɔawo no foforo nufusu soronko bi a amino acid abiɛsa yi nni mu, na mmom aduannuru afoforo no nyinaa wom.

Ɛho hia sɛ wo ne aduannuru ho ɔbenfo yɛ adwuma de yɛ aduan ho nhyehyɛe a ahobammɔ wom na ahoɔden wom a ɛfata ɔyarefo biara.

2. Nneɛma a wɔhwɛ so daa

Ɛsɛ sɛ ɔyarefo a ɔwɔ MSUD no kɔ oduruyɛfo hwɛ ase ne nkwa nna nyinaa. Wɔyɛ mogya ne nsu mu nhwehwɛmu daa de hwɛ amino acid dodow a ɛwɔ nipadua no mu. Wogyina nea efi mu ba so na ɛyɛ nsakrae wɔ aduan no mu.

3. Ayaresa a egye ntɛmpɛ ma nipadua mu nneɛma a ɛsakra no

Sɛ wunya nipadua mu nneɛma a ɛsakra ho sɛnkyerɛnne a, ɛsɛ sɛ wode wo kɔ ayaresabea ntɛm ara. Wɔ ayaresabea hɔ no, nnuruyɛfo kuw no betumi de ayaresa ahorow a edidi so yi ama:

• Wɔnam glucose ne insulin a wɔde fa ntini mu (IV) so na ɛhwɛ amino acid dodow so.
• Wɔnam nasogastric tube anaa IV so de aduannuru a ɛho hia, nanso ɛnyɛ asiane biara ma nipadua no.
• Wɔyɛ hemodialysis de yi nneɛma a awuduru wom fi mogya no mu.
• Wɔtaa hwɛ nsɛnnennen te sɛ amemene mu ahonhon na wɔde ayaresa a ɛho hia ma.

So wobetumi de mmerɛbo foforo asa yare yi?

Aane. Eyi ne anidaso a eye sen biara ma MSUD ayarefo.Wobetumi de mmerɛbo a wɔde bɛma obi foforo asa MSUD a wɔtaa yɛ no yiye.

Nea enti a ɛte saa ne sɛ, mmerɛbo no titiriw na ɛma enzyme a ɛpaapae amino acid ahorow a ɛde ɔhaw ba no. Enti sɛ wɔde mmerɛbo a ɛte apɔw si ananmu a, saa mmerɛbo no ma enzyme a ɛho hia no ba. Ɛno akyi no, ɔyarefo no betumi atra ase sɛnea ɛsɛ a aduan ho anohyeto anaa sɛnkyerɛnne biara nni ho.

Nanso, mmerɛbo a wɔde ma obi foforo yɛ oprehyɛn titiriw. Ɛwɔ asiane ahorow. Ɛhwehwɛ nso sɛ nnuru a wɔde siw nipadua no mu tumi a ɛko tia nyarewa ano wɔ ne nkwa nna nyinaa mu na amma nipadua no ampow mmerɛbo foforo no. Nanso, saa kwan yi de nneɛma pa aba nnipa pii mu sen sɛ wɔde MSUD bɛtra.

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw yare yi ano?

Esiane sɛ MSUD yɛ awosu mu yare nti, wontumi nsiw ano koraa. Nanso, asiane a ɛwɔ hɔ sɛ abofra benya yare no afi awo mu no betumi atew.

Sɛ obi wɔ w’abusua mu wɔ MSUD a, ɛho hia sɛ wo ne wo duruyɛfo kasa fa ho ansa na woawo akokoaa. Wo ne wo hokafo no betumi ayɛ awosu mu nhwehwɛmu ahwɛ sɛ moyɛ awosu mu nneɛma a wɔde fa nneɛma anaa. Sɛ mo baanu nyinaa yɛ wɔn a wɔde yare no kɔ a, mubetumi ne awosu ho ɔfotufo bi akasa akyerɛ asiane a ɛwɔ hɔ sɛ wode yare no bɛkɔ wo ba no mu ne anammɔn a mubetumi atu de asiw ano.