So wunim awosu mu yare a ɛntaa nsi a wɔfrɛ no Homocystinuria (HCU) no? Momma yɛnka ho asɛm!

Ɛnnɛ yɛrebɛka tebea bi a yɛntee ho asɛm da, nanso ɛho hia paa sɛ obiara hu ho asɛm. Wɔfrɛ eyi Homocystinuria, anaasɛ `(HCU)` tiawa. Ɛtɔ mmere bi a, sɛ nnuru bi a ɛkɔ so wɔ yɛn nipadua mu no ankɔ yiye a, ɔhaw ahorow a yɛnhwɛ kwan betumi asɔre. Eyi yɛ tebea a ɛte saa no mu biako a wɔfrɛ no `(HCU)`. Nsuro, momma yɛnka eyi ho asɛm tiawa.

Dɛn ne Homocystinuria (HCU)?

Sɛ yɛbɛka no tiawa a, `(HCU)` yɛ awosu mu yare a ɛntaa nsi . Nea ɛba wɔ eyi mu ne sɛ yɛn nipadua no ntumi nni amino acid `(Homocysteine)` so yiye, kyerɛ sɛ, entumi mfa nni dwuma na ennyi mfi hɔ. Wo de susuw ho hwɛ, sɛ nneɛma a mfaso nni so boaboa ano wɔ yɛn nipadua mu a, dɛn na ɛba? Saa ara na saa `(Homocysteine)` yi boaboa ano wɔ mogya ne nsu mu a ɛho nhia. Saa nneɛma a ɛboaboa ano yi betumi de nsɛnnennen a emu yɛ den aba aniwa, nnompe nhyehyɛe (yɛn nnompe), ntini a ɛwɔ mfinimfini (amemene ne akyi berɛmo), ne ntini (mogya ntini) mu. Afei wowɔ asɛmmisa bi , dɛn ne saa amino acid ahorow yi? Amino acid ne nneɛma atitiriw a ɛkyekye protein ahorow. Sɛnea birikisi ho hia na ama wɔasisi ɔdan no, saa ara na amino acid ho hia na ama yɛatumi ayɛ protein wɔ yɛn nipadua mu. Yɛn nipadua no yɛ saa `(Homocysteine)` yi fã bi fi amino acid foforo a wɔfrɛ no `(Methionine)` mu. Afei nso, efi nnuan a protein pii wom a yedi, sɛ nhwɛso no, nam, mpataa, ne nkesua mu no, yenya `(Methionine)` pii. Mpɛn pii no, yɛn nipadua no bubu saa `(Methionine)` yi mu na ɛdan no `(Homocysteine)`. Nanso, wɔ obi a ɔwɔ `(Homocystinuria) nipadua mu no, enzyme bi a ehia na ama wɔadi saa `(Homocysteine)` yi so yiye, kyerɛ sɛ, ɛbɛma akɔ so ayɛ nea ɛho hia na wɔasesa nea aka no, nni hɔ, anaasɛ ɛnyɛ adwuma yiye. Enzyme yɛ protein bi a ɛma nnuru yɛ adwuma ntɛmntɛm wɔ yɛn nipadua mu. Enti sɛ saa enzyme yi nni hɔ a, `(Homocysteine)` dodow kɔ soro.

Dɛn ne homocystinuria ahorow atitiriw?

Nhwehwɛmufo akyekyɛ homocystinuria mu ayɛ no ahorow pii a egyina awosu mu nneɛma a ɛde ba no so. Nneɛma atitiriw abien na ɛwɔ hɔ:

1. Cystathionine beta-synthase (CBS) a enni nipadua mu (Classical Homocystinuria) .

Eyi ne homocystinuria a ɛtaa ba . Cystathionine beta-synthase (CBS) yɛ enzyme a ɛboa ma homocysteine ​​dan amino acid foforo, cysteine. Saa yare yi ba bere a CBS awosu mu abɔde no ntumi nyɛ CBS enzyme kakraa bi dodo anaasɛ ɛnyɛ saa, anaasɛ bere a CBS enzyme no ntumi nyɛ adwuma yiye no. CBS enzyme no hia vitamin B6 a wɔsan frɛ no pyridoxine no na ama ayɛ adwuma yiye. Wɔakyekyɛ saa ɔkwan yi mu bio sɛnea woyɛ w’ade yiye wɔ vitamin B6 a wɔde ma no ho.

2. Cobalamin (cbl) nipadua mu nneɛma a ɛsakra no mu sintɔ

Ɛsɛ sɛ yɛn nipadua no dan homocysteine ​​no bi san dan methionine. Adeyɛ yi fa vitamin B12 a wɔsan frɛ no cobalamin ho. Yɛn nipadua no fa anammɔn pii mu de dan homocysteine ​​san ma ɛbɛyɛ methionine. Homocystinuria a cobalamin a enni nipadua no mu na ɛde ba no ba bere a nipadua no ntumi nwie saa anammɔn yi, entumi nyɛ enzyme a ɛfata, anaasɛ ɛma enzyme ahorow a asɛe no.

Nsonsonoe bɛn na ɛda homocystinuria ne Marfan syndrome ntam?

Marfan syndrome yɛ awosu mu yare a ɛntaa nsi a ɛka ntini a ɛka nipadua no nyinaa bom. Ɔyare yi ho sɛnkyerɛnne pii te sɛ homocystinuria de no. Sɛ nhwɛso no, nsateaa atenten, nsateaa atenten a ɛyɛ tratraa, ectopia lentis, ne myopia. Nanso, nsakrae bi a ɛba Fibrillin-1 (FBN1) awosu mu abɔde mu na ɛde Marfan yare no ba. Nnipa a wɔwɔ Marfan syndrome no wɔ homocysteine ​​ne methionine dodow a ɛfata.

Henanom na tebea yi ka no kɛse? Ɛtaa ba dɛn?

Homocystinuria fi awosu mu nsakrae bi. Enti obiara betumi anya bi. Nanso, nhwehwɛmu ahorow bi ada no adi sɛ saa tebea yi ka nnipa a wɔwɔ aman bi mu sen afoforo. Aman yi ne:

• Ireland
• Norway
• Germany
• Qatar na ɛwɔ hɔ

Homocystinuria yɛ awosu mu yare a ɛntaa nsi koraa . Yare no a abu so sen biara no ka nnipa 200,000 biara mu biako kosi nnipa 335,000 biara mu biako wɔ wiase nyinaa. Ɛno ho yɛ na ankasa.

Dɛn ne homocystinuria ho sɛnkyerɛnne ahorow?

`(Homocystinuria)` ho sɛnkyerɛnne no gu ahorow gyina ɔkwan a wowɔ so. Wɔtaa fi ase da adi wɔ nkwa mfe kakraa a edi kan no mu. Nanso, ebia nnipa binom rennya yare no ho sɛnkyerɛnne biara kosi sɛ wɔbɛyɛ mpanyin. `(Homocystinuria)` a ɛtaa ba no taa ka nhyehyɛe ahorow yi:

• Ani
• Nnompe nhyehyɛe
• Ntini a ɛwɔ mfinimfini
• Ntini mu nhyehyɛe

`(Homocystinuria)` ho sɛnkyerɛnne betumi ayɛ:

Nsɛnkyerɛnne a ɛka aniwa no:

• Aniwa no ahwehwɛ no fi ne gyinabea a ɛfata (ectopia lentis). Eyi betumi ama obi aniwa nhu ade yiye .
• Aniwa a ɛyɛ mmerɛw kɛse (myopia), a ɛkyerɛ sɛ wontumi nhu ade wɔ akyirikyiri.

Nsɛnkyerɛnne a ɛka nnompe nhyehyɛe no:

• Nkɔso a ɛboro so a wɔda no adi .
• Nsa, nan, ne nsateaa a ɛware wɔ ɔkwan a ɛnteɛ so.
• Wɔkotow nkotodwe no kɔ mu na nkotodwe no bɔ bom bere a nan no teɛ (wɔsan frɛ eyi ``knock knees'').
• Wɔde koko no akɔhyɛ mu anaasɛ ɛpuepue kɔ anim.
• Akyi berɛmo a ɛyɛ kurukuruwa (scoliosis).
• Nnipa a wɔwɔ homocystinuria nso wɔ asiane mu sɛ wobenya nnompe mu yare .

Nsɛnkyerɛnne a ɛka ntini a ɛwɔ mfinimfini no:

• Nkɔso a ɛkyɛ . Eyi kyerɛ sɛ wɔrenkyerɛ adwene anaa nipadua mu nkɔso a ɛfata mfe a obi adi.
• Adesua mu nsɛnnennen.

Nsɛnkyerɛnne a ɛka koma ne ntini nhyehyɛe no:

• Asiane a ɛkɔ soro sɛ mogya bɛtɔ. Saa mogya a ɛtɔ yi betumi de tebea horow a asiane wom te sɛ ɔyare a ɛma obi hwe ase anaa ahurututu mu akisikuru aba.

Dɛn ne nneɛma a ɛde homocystinuria ba?

Homocystinuria ahorow pii fi awosu mu nsakrae, anaa nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm ahorow mu.

Awosu mu nneɛma a ɛde ba

`(Homocystinuria)` a ɛtaa ba no fi nkwaadɔm mu nsakrae a ɛba `(CBS)` awosu mu abɔde mu. Saa `(CBS)` gene yi kyerɛ yɛn nipadua sɛnea ɛbɛyɛ enzyme bi a wɔfrɛ no `(Cystathionine beta-synthase)`. Saa enzyme yi na ɛyɛ nnuru kwan a ɛdannan `(Homocysteine)` acid ma ɛbɛyɛ `(Methionine)`. `(Homocystinuria)` nso betumi afi nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm `(MTHFR)`, `(MTR)`, `(MTRR)` ne `(MMADHC)` mu. Saa awosu mu nkwaadɔm yi nyinaa na ɛdan `(Homocysteine)` acid ma ɛbɛyɛ `(Methionine). Sɛ awosu mu nkwaadɔm yi mu biara wɔ mutation a, enzyme a ɛfa ho no nyɛ adwuma yiye. Afei `(Homocysteine)` fi ase boaboa ano wɔ nipadua no mu. Nanso, nhwehwɛmufo da so ara nnim nea enti a homocysteine ​​dodow a ɛdɔɔso de homocystinuria ho sɛnkyerɛnne ahorow ba no yiye. Wonya homocystinuria fi awo mu wɔ autosomal recessive nhyehyɛe mu. Eyi kyerɛ sɛ sɛ w’awofo a wɔwoo wo no baanu nyinaa a mpɛn pii no wonni sɛnkyerɛnne biara no de awosu mu abɔde a ɛka wo no ma wo nkutoo a, wubenya yare no.

So vitamin a wonnya nni na ɛde homocystinuria ba?

Yiw, homocystinuria nso betumi aba esiane nneɛma a ɛnyɛ awosu mu nneɛma nti. Saa tebea yi nso betumi afi vitamin B6, vitamin B9 (folate), anaa vitamin B12 (cobalamin) a onni kɛse no mu aba.

Ɔkwan bɛn so na wohu sɛ obi anya Homocystinuria?

Wɔ aman te sɛ United States mu no, wɔde nhwehwɛmu a wɔde hwehwɛ mmofra a wɔawo wɔn foforo mu di dwuma de hwehwɛ nipadua mu nneɛma pii mu, a homocystinuria ka ho. Homocysteine ​​nhwehwɛmu no susuw homocysteine ​​ne methionine dodow a ɛwɔ wo ba no mogya mu. Sɛ nhwehwɛmu no mu aba yɛ papa, na ɛkyerɛ sɛ ebia tebea no wɔ hɔ a, wo ba no duruyɛfo bɛhyɛ sɛ wɔnyɛ nhwehwɛmu foforo mfa nsi nea afi mu aba no so dua. Nanso, ɛnyɛ bere nyinaa na saa mmofra a wɔawo wɔn foforo sɔhwɛ ahorow yi yɛ nokware 100%. Ɛtɔ mmere bi a, ebia wontumi nhu tebea horow bi. Enti, wohu sɛ nnipa binom anya homocystinuria bere a yare no ho sɛnkyerɛnne ahorow ada adi akyi. Ɛwom sɛ yare no ho sɛnkyerɛnne pii da adi wɔ nkokoaa anaa mmofraase de, nanso ɛtɔ mmere bi a ebetumi ada adi wɔ mpanyin afe so. Sɛ wowɔ `(Homocystinuria)` ho sɛnkyerɛnne a, wo duruyɛfo bɛhyɛ sɛ wɔnyɛ `(Homocysteine ​​nhwehwɛmu)` mfa nsi tebea no so dua. Sɛ nea efii mu bae no kyerɛ sɛ wowɔ `(classical homocystinuria)` (kyerɛ sɛ, `(CBS)` deficiency) a, wo duruyɛfo bɛhyɛ sɛ wobɛsan ayɛ nhwehwɛmu foforo de ahu subtype a wowɔ. Wɔfrɛ eyi `(vitamin B6 asɛnnennen)` . Saa sɔhwɛ yi hu sɛnea woyɛ w’ade wɔ vitamin B6 a wɔde ma ho. Afei wo duruyɛfo betumi ayɛ ayaresa nhyehyɛe a ɛfata ama wo. `(Classical homocystinuria)` betumi akyekyɛ mu sɛnea edidi so yi:

• Vitamin B6-responsive: Wo nipadua no ma enzyme ``(CBS)'' no dɔɔso, enti vitamin B6 betumi aboa saa enzyme no ma ayɛ adwuma yiye.
• Vitamin B6-a ɛyɛ adwuma fã bi: Wo nipadua no yɛ enzyme ``(CBS)'' no bi, enti vitamin B6 betumi aboa fã bi.
• Vitamin B6-non-responsive: Wo nipadua no ntumi nyɛ enzyme ``(CBS)'' no sɛnea ɛsɛ, enti ɛnyɛ nea ɛbɛyɛ yiye sɛ vitamin B6 bɛboa enzyme no.

Awosu mu nhwehwɛmu betumi ahu nsakrae a aba awosu mu nkwaadɔm a ɛde homocystinuria ba no mu. Nanso, nnuruyɛfo ntaa mfa eyinom nni dwuma efisɛ homocysteine ​​nhwehwɛmu nkutoo na ebetumi ahu tebea no.

Dɛn ne ayaresa ahorow a wɔde sa homocystinuria?

Nea ɛka homocystinuria ayaresa ho ne sɛ wobɛhwɛ homocysteine ​​dodow a ɛwɔ wo mogya mu so na woadi wo sɛnkyerɛnne ahorow no so. Mpɛn pii no, nea ɛka ayaresa ho ne vitamin B6 a wɔde ma a wɔbɛnom. Sɛ wowɔ nea ɛyɛ vitamin B6 (homocystinuria a wɔtaa de di dwuma) ho biribi a, ebia vitamin B6 a wɔde ma no bɛdɔɔso sɛ ɛbɛtew wo homocysteine ​​dodow so na ahwɛ so. Nanso, sɛ wowɔ nea enni vitamin B6 (homocystinuria a wɔtaa de di dwuma) ho dwuma anaasɛ ɛnyɛ nea ɛyɛ adwuma fã bi a, ebia vitamin B6 a wɔde ma nkutoo rennɔɔso. Ebia wubehia ayaresa foforo a wubetumi apaw. Ebia eyinom bi ne:

• Aduru `(Betaine)` (Betaine) anaa `(Cystadane): `(Betaine)` boa ma `( Homocysteine ​​)` dodow a ɛwɔ wo mogya mu no so tew.
• Aduan titiriw a wɔde ma `(Homocystinuria)`: Ɛsɛ sɛ wudi aduan a ɛbara nnuan a protein ne `(Methionine)` wom akyi.
• Nnuru foforo a wɔde ka ho: Sɛ wowɔ homocystinuria foforo a, ebia ɛho behia nso sɛ wofa folate ( vitamin B9 ) anaa cobalamin ( vitamin B12 ) a wɔde ka ho.

Nea ɛho hia sen biara ne sɛ ɛsɛ sɛ wɔtoa saa ayaresa yi so wɔ nkwa nna nyinaa mu . Ɛno nkutoo na wubetumi adi wo homocysteine ​​dodow so, atew nsɛnnennen so, na woatra ase a ahoɔden wom.

Bere tenten ahe na wubetumi atra ase wɔ homocystinuria ho?

Sɛ wohu ntɛm na wɔsa wɔn yare yiye wɔ wɔn nkwa nna nyinaa mu a, mmofra dodow no ara a wɔwɔ Homocystinuria betumi ahwɛ kwan sɛ wɔbɛtra ase sɛnea ɛsɛ na apɔwmuden . Enti, sɛ wobehu yare no ntɛm na wɔakɔ so asa yare no ho hia yiye.

So wobetumi asiw homocystinuria ano?

Esiane sɛ ɛyɛ awosu mu tebea nti, wontumi nsiw homocystinuria ano. Nanso, sɛ woanyinsɛn anaa woreyɛ nhyehyɛe sɛ wobɛwo ba daakye a, ɛfata sɛ wo ne awosu ho ɔfotufo bi kasa. Awosu mu afotu betumi aboa wo ma woate asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ homocystinuria no ase. Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ woayɛ basaa bere a wuhu sɛ wo anaa wo ba no wɔ awosu mu tebea bi no. Gye bere sua biribiara a wubetumi afa homocystinuria ho. Afei, hwehwɛ oduruyɛfo a ɔte wo tebea no ase yiye. Sɛ wo ne obi a ɔyɛ nipadua mu nneɛma a ɛsakra no ho ɔbenfo yɛ adwuma a, ebetumi ama woate nka sɛ wubetumi adi so. Ɛdenam nsɛm ne nneɛma a wode bɛma wo ho tumi so no, wubetumi anya nea eye sen biara.

Awiei koraa no, ade a ɛho hia sen biara (Take-Home Message) .

Okay, enti mewɔ anidaso sɛ seesei woanya ntease pa wɔ nea yɛaka ho asɛm (Homocystinuria) no ho. Nneɛma atitiriw bi a ɛsɛ sɛ wokae ni:

• Dɛn ne `(Homocystinuria)`?Awosu mu yare a ɛntaa nsi, nanso ebetumi ayɛ hu.
• Nea ɛba wɔ eyi mu ne sɛ nipadua no ntumi nni nnuru bi a wɔfrɛ no ``Homocysteine,'' so yiye na ɛboaboa ano wɔ nipadua no mu.
• Eyi betumi de ɔhaw ahorow aba aniwa, nnompe, ntini, ne mogya ntini mu .
• Ade a ɛho hia sen biara ne sɛ wubehu yare no ntɛm na woanya ayaresa a ɛfata wɔ w'asetra nyinaa mu . Sɛ woyɛ saa a, wubetumi abɔ bra sɛnea ɛsɛ.
• Vitamin B6, aduan titiriw bi, ne nnuru bi ne ayaresa titiriw a wɔde sa eyi.
• Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho, anaasɛ sɛ obi a ɔwɔ w’abusua mu wɔ saa sɛnkyerɛnne ahorow yi a, hwɛ hu sɛ wobɛhwehwɛ aduruyɛfo afotu.

Nsuro, ɔkwan a eye sen biara a wobɛfa so adi aduruyɛ tebea biara ho dwuma ne sɛ wubehu ho nsɛm yiye. Homocystinuria, awosu mu nyarewa, homocysteine, amino acid, vitamin B6, vitamin B12, methionine