So wo nipadua ntumi mfa glucose nsie na wɔmfa nni dwuma yiye? Momma yɛnka Glycogen Storage Disease (GSD) ho asɛm!

So wo anaa wo ba te nka sɛ wabrɛ bere nyinaa? Anaasɛ ɛtɔ mmere bi a, wote nka mpofirim sɛ awɔw, wo ho fifiri, na wo ho yɛ wo yaw? So wobrɛ ntɛm bere a wonam anaa woredi agoru no? Ɛtɔ mmere bi a, eyinom betumi afi ɔhaw ketewaa bi a ɛwɔ ɔkwan a yɛn nipadua no fa so di ahoɔden so, kyerɛ sɛ, ɔkwan a ɛfa so de asikre di dwuma no mu. Ɛnnɛ yɛrebɛka yareɛ bi a ɛntaa nsi a ɛho hia paa sɛ obiara hwɛ so ho asɛm. Ɛno ne glycogen storage disease , a nnuruyɛfo nso frɛ no `(Glycogen Storage Disease)` anaa `(GSD)` tiawa.

Sɛ yɛbɛka no tiawa a, dɛn na eyi ``(GSD)`` kyerɛ?

Okay, afei momma yɛnhwɛ nea saa `(GSD)` yi yɛ. Sɛ yɛbɛka no tiawa a, ɛyɛ tebea a yɛn nipadua ntumi mfa glycogen nni dwuma anaasɛ enkora so yiye . Eyinom yɛ nipadua mu nneɛma mu yare bi a wonya fi awo mu, a ɛkyerɛ sɛ efi ɔwofo hɔ kɔ abofra hɔ.

Seesei ebia woresusuw nea glycogen yɛ ho. Glycogen yɛ ɔkwan a yɛn nipadua fa so sie glucose, anaa asikre, fi aduan a yedi mu. Sɛnea wunim no, glucose ne pɛtro titiriw a ɛma yɛn nipadua nya ahoɔden. Yenya saa glucose yi fi nnuan a yedi a carbohydrates wom no mu. Nipadua no nhia glucose yi nyinaa prɛko pɛ. Enti, nipadua no sie glucose a ɛboro so yi wɔ mmerɛbo ne ntini ahorow mu sɛ glycogen. Yebetumi de adi dwuma akyiri yi bere a yehia ahoɔden no.

Wɔfrɛ ɔkwan a yɛn nipadua no fa so yɛ glycogen fi glucose mu no glycogenesis . Saa ara nso na sɛ nipadua no hia ahoɔden bio a, wɔfrɛ ɔkwan a wɔfa so bubu glycogen a wɔakora so yi na wɔsan yɛ no glucose no glycogenolysis . Enzyme ahorow boa wɔ saa nneɛma abien yi nyinaa mu.

Glycogen storage disease (GSD) ba bere a saa enzyme ahorow yi mu biako anaa nea ɛboro saa nni hɔ anaasɛ entumi nyɛ adwuma yiye no. Eyi kyerɛ sɛ nipadua no ntumi mfa glycogen a wɔakora so no nni dwuma mfa nnya ahoɔden anaasɛ entumi nkura asikre dodow a ɛwɔ mogya mu no mu yiye. Eyi betumi de ɔhaw ahorow bi aba, a nea ɛka ho ne asikre dodow a ɛba fam wɔ mogya mu mpɛn pii (hypoglycemia) , mmerɛbo a ɛsɛe, ne ntini a ɛyɛ mmerɛw.

So `(GSD)` ahorow ahorow wɔ hɔ?

Yiw, esiane sɛ yɛn nipadua de enzyme ahorow di dwuma de yɛ glycogen ho adwuma nti, GSD ahorow ahorow wɔ hɔ – anyɛ yiye koraa no 19! Nnuruyɛfo nim nneɛma ahorow bi ho ade pii, nanso wɔda so ara resua afoforo ho ade. GSD ka wo mmerɛbo anaa wo ntini titiriw. Nanso ahorow bi betumi de ɔhaw ahorow aba wo nipadua no afã afoforo nso.

GSD biara fi enzyme pɔtee bi a ɛka ho wɔ glycogen a wɔkora so anaasɛ ɛpaapae mu a enni hɔ. Eyi kyerɛ sɛ enzyme no nni hɔ anaasɛ ɛso atew. Ɛtɔ mmere bi a nnuruyɛfo de enzyme a ayera anaa nyansahufo a odii kan huu GSD no din to saa ahorow yi so.

Glycogen a wɔkora so yare abu so dɛn?

Nokwarem no, glycogen a wɔkora so yare yɛ tebea a ɛntaa nsi koraa . ``(GSD)`` type I ``(GSD type I (von Gierke yare))``, a ɛyɛ type a ɛtaa ba no, ba bɛyɛ awoɔ 100,000 biara mu baako mu. Enti wubetumi ahu sɛnea eyi ho yɛ na.

Dɛn ne GSD ho sɛnkyerɛnne ahorow?

GSD ho sɛnkyerɛnne betumi ayɛ soronko wɔ onipa biara ho. Eyi kyerɛ sɛ nnipa baanu a wɔwɔ GSD koro mpo betumi anya yare no ho sɛnkyerɛnne ahorow. GSD Type I (a ɛyɛ nea abu so sen biara) taa fi ase da sɛnkyerɛnne ahorow adi bere a akokoaa no adi asram abiɛsa kosi anan . Nanso, ahorow afoforo no bi betumi ada sɛnkyerɛnne adi akyiri yi, ɛtɔ mmere bi mpo wɔ mmerantebere ne mmabaabere mu.

Nsɛnkyerɛnne atitiriw abien a wohu wɔ tebea yi mu ne asikre a ɛba mogya mu (hypoglycemia) ne/anaasɛ ɔbrɛ bere a wɔreyɛ apɔw-mu-teɛteɛ, te sɛ mmirikatu anaa ahuruhuruw (apɔw-mu-teɛteɛ a wontumi nnyina ano).

Asikre a ɛwɔ mogya mu a ɛba fam (hypoglycemia) yɛ bere a wo mogya mu glucose dodow so tew sen 70 mg/dL. Sɛ eyi ba a, wubetumi anya yare no ho sɛnkyerɛnne te sɛ:

• Sɛ wote nka sɛ wo nipadua rewosow.
• Fifiri ne awɔw a wɔte nka.
• Dizziness , nkate a ɛma obi te nka sɛ ne ti twitwiw ne ho.
• Sɛ́ wobɛte nka sɛ wayɛ mmerɛw na nkwa nnim.
• Koma a ɛbɔ denneennen.
• Ɛtɔ da bi a, ɔkɔm a wontumi nnyina ano, na nnipa binom frɛ eyi ``hyperphagia''.
• Ɛyɛ den sɛ wubesusuw nneɛma ho, wontumi mfa n’adwene nsi biribi so.
• Dadwen ne abufuw a wɔte nka.
• Wora a ɛyɛ bruu (paleur).
• Ɛtɔ mmere bi a, sɛ asikre dodow a ɛwɔ mogya mu no so tew dodo , akisikuru betumi aba.

Wo de susuw ho hwɛ sɛ na wo ba ketewa no redi agoru fɛfɛɛfɛ na mpofirim ara ofii ase wosow, ne ho fifiri, na ontumi nkasa mpo a? Wobɛte ehu nka dɛn saa bere no? Ɛno ne nea asikre a ɛba nipadua mu no yɛ.

Eyi akyi no, wobetumi ahu nneɛma afoforo te sɛ `(GSD)` nso:

• Ntini a ɛyɛ mmerɛw anaa ntini a ɛyɛ mmerɛw.
• Mmofra nyin brɛoo ne wɔn mu duru a ɛnyɛ papa.
• Mmɛn no a ɛtrɛw (hepatomegaly).
• Ntini mu ahoɔden a ɛba fam.
• Cholesterol a ɛkɔ soro wɔ mogya mu (hyperlipidemia).

Dɛn na ɛde GSD ba?

Nea ɛde GSD ba titiriw ne awosu mu nsakrae a wonya fi awo mu . Saa awosu mu nsakrae yi ka enzyme ahorow a ehia na wɔde akora glycogen so na wɔde adi dwuma no dwumadi. Abofra nya awosu mu nsakrae yi fi ne maame ne ne papa nyinaa hɔ.

GSD dodow no ara wɔ autosomal recessive agyapade nhyehyɛe. Eyi kyerɛ sɛ sɛ abofra betumi anya tebea no a, ɛsɛ sɛ wonya awosu mu nsakrae no fi ɛna ne agya no nyinaa hɔ.

Nanso, ahorow bi te sɛ GSD Kuw IX no wɔ agyapade a ɛne X wɔ abusuabɔ . Eyi kyerɛ sɛ awosu mu nsakrae no wɔ wo X chromosome no so. Sɛ ɔbarima (a ɔwɔ X chromosome biako pɛ) nya saa mutation yi a, obenya yare no. Sɛ ɔbea bi wɔ saa nkwaadɔm mu nsakrae yi wɔ X chromosome biako so na X chromosome foforo no wɔ apɔwmuden a, mpɛn pii no ɔrenkyerɛ yare no ho sɛnkyerɛnne, nanso ebia ɔno na ɔde yare no kɔ.

Mɛyɛ dɛn ahu sɛ mewɔ `(GSD)`?

Sɛnea ɛbɛyɛ na woahu no yiye sɛ wo ba no wɔ GSD no, ɛda adi sɛ wo ba no duruyɛfo bɛhyɛ sɛ wɔnyɛ nhwehwɛmu mpɛn pii. Esiane sɛ GSD yɛ tebea a ɛntaa nsi nti, ebetumi agye bere kakra na wɔapow tebea afoforo na wɔahu GSD ko pɔtee a wɔwɔ. Ebia sɔhwɛ ahorow yi bi ne:

• Asikre a ɛwɔ wo mogya mu a wodi mmuadadi mu nhwehwɛmu: Sɛ asikre dodow a ɛwɔ wo mogya mu no sua bere a wunnni hwee anɔpa akyi a, ebetumi ayɛ GSD ho sɛnkyerɛnne.
• Ketone mogya mu nhwehwɛmu: Sɛ nipadua no ntumi mfa glucose nni dwuma a, ɛhyew srade de hwehwɛ ahoɔden. Eyi ma wonya nneɛma a wɔfrɛ no ketones. Mmofra a wɔwɔ GSD taa nya tebea bi a ɛne ketosis (ketones a ɛkɔ soro wɔ mogya no mu).
• Basic metabolic panel: Eyi betumi ama woanya abofra no akwahosan nyinaa ho adwene.
• Lipid panel: Eyi nso ho hia efisɛ srade a ɛdɔɔso (hyperlipidemia) abu so wɔ GSD mu.
• Mmerɛbo dwumadi ho nhwehwɛmu: Eyinom betumi ahwɛ sɛnea wo ba mmerɛbo no te. Sɛ nneɛma bi a ɛnteɛ wɔ hɔ a, ebetumi ayɛ GSD ho sɛnkyerɛnne.
• Nsu mu nhwehwɛmu: Nsu mu nhwehwɛmu betumi ahwɛ creatinine dodow (a ɛkyerɛ sɛ asaabo no yɛ adwuma) ne uric acid dodow. GSD taa kyerɛ sɛ uric acid dodow kɔ soro (hyperuricemia) .
• Yafunu mu ultrasound: Eyi betumi ahwɛ sɛ abofra no mmerɛbo ayɛ kɛse anaa.
• Awosu mu nhwehwɛmu: Eyi hwehwɛ ɔhaw ahorow a ɛwɔ awosu mu nkwaadɔm a ɛfa enzyme ahorow ho no mu.

Ɛwom sɛ awosu mu nhwehwɛmu pɔtee bi wɔ hɔ a wɔde hu GSD ahorow pii de, nanso ɛtɔ mmere bi a wo ba no duruyɛfo betumi akamfo akyerɛ sɛ wɔnyɛ biopsy , a nea ɛka ho ne sɛ wogye ntini ketewaa bi fi mmerɛbo anaa ntini mu, na ama wɔahu sɛ ɔwɔ bi.

Ɔkwan bɛn so na wɔsa GSD?

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa glycogen a wɔkora so yare. Wɔde ayaresa no atirimpɔw titiriw ne sɛ wobesiw yare no ho sɛnkyerɛnne ahorow so. Ayaresa a wubetumi apaw no gu ahorow a egyina GSD ko a wowɔ so. Ayaresa a wobetumi apaw ho nhwɛso ahorow bi ni:

• Asikre a ɛba mogya mu a wobesiw ano: Sɛ wode atoko a wɔannoa anaa aduannuru a ɛte saa ma wɔ bere a ɛfata mu ne dodow a ɛfata a, ebetumi aboa ma asikre dodow a ɛwɔ mogya mu no akɔ so ayɛ nea ɛyɛ den. Cornstarch yɛ carbohydrate a ɛyɛ den a ɛyɛ den kakra ma nipadua no sɛ ɛbɛyam. Enti, ebetumi ahwɛ asikre dodow a ɛwɔ mogya mu so bere tenten asen carbohydrates a ɛwɔ nnuan a wodi daa mu no. Mprempren ade bi a wɔtɔn a eye sen saa mpo wɔ hɔ a ɛtra nipadua no mu kyɛ. Eyi nso bɛma ɛho nhia sɛ wosɔre anadwo fã kɔma wo kraman aduan.
• Asikre a ɛba fam a wobɛsa: Sɛ asikre a ɛwɔ wo mogya mu no so tew esiane GSD nti a, ɛsɛ sɛ wode carbohydrates sa no ntɛm ara. Sɛ ɛnte saa a, asikre a ɛba fam no betumi ayɛ kɛse na ɛde nsɛnnennen te sɛ akisikuru ne komayare aba.
• Srade a ɛkɔ soro a wobedi so: Nnuru kuw bi a wɔfrɛ no statins boa ma wɔhyɛ srade dodow so.
• Uric acid dodow a ɛkɔ soro a wobedi so: Aduru a wɔfrɛ no allopurinol boa ma uric acid a ɛba nipadua no mu no so tew.

Wobetumi de enzyme replacement therapy (ERT) asa GSD ahorow bi (sɛ nhwɛso no, GSD type II) . Wɔtaa de eyi ma sɛ IV infusion. Nhwehwɛmu da so ara kɔ so de hwɛ sɛ wobetumi de ERT adi dwuma ama GSD ahorow afoforo anaa.

Sɛ mmerɛbo no sɛe kɛse esiane GSD nti a, ebia ɛho behia sɛ wɔde mmerɛbo foforo ma .

So wobetumi asiw glycogen a wɔkora so yare ano?

Esiane sɛ nyarewa a wɔde sie glycogen yɛ awosu mu tebea horow (a wonya fi awo mu) nti, biribiara nni hɔ a yebetumi ayɛ de asiw ano.

Sɛ obi wɔ w’abusua mu wɔ GSD, na woresusuw ho sɛ wobɛwo a, ɛyɛ papa sɛ wobɛhwehwɛ awosu mu afotu na woahu sɛ wo nso woyɛ awosu mu nsakrae yi kurafo anaa.

Obi a ɔwɔ `(GSD)` akwahosan tebea te dɛn?

Wɔ GSD ahorow dodow no ara mu no, sɛ wohu ɔyare no ntɛm na wodi ho dwuma yiye a, ebetumi ama ɔyarefo no nkɔmhyɛ atu mpɔn. Nanso, GSD ahorow bi yɛ den kɛse sɛ wobedi ho dwuma. Wo duruyɛfo betumi ama woanya nea wobɛhwɛ kwan no ho adwene a eye.

Dɛn ne nsɛnnennen a ebetumi afi GSD mu aba?

GSD betumi de nsɛnnennen ahorow aba. Egyina:

• Wɔ `(GSD)` type no so.
• Sɛ wɔtwentwɛn yare no a wobehu no ase a.
• Sɛ wɔanhwɛ yare no yiye a, ɛbɛkɔ so.

Sɛ nhwɛso no, nsɛnnennen a ebetumi aba esiane ``(GSD)`` Ɔfã I a wɔansa no bi ne:

• Nnompe a ɛso tew, ɛnyɛ den sɛ ɛbɛpaapae, ne nnompe a ɛyɛ mmerɛw .
• Mmabunbere a ɛkyɛ.
• Gout.
• Asaabo mu yare.
• Ahurututu mu mogya mmoroso.
• mmerɛbo mu akisikuru a ɛnyɛ kokoram (hepatic adenomas).
• Mmea a wɔwɔ polycystic ovary syndrome (PCOS) a ɛwɔ nipadua no mu.
• Ɔyare a ɛba dwensɔtwaa mu (Pancreatitis).
• Asikre dodow a ɛba fam wɔ mogya mu mpɛn pii no betumi aka amemene no dwumadi.

Obi a ɔwɔ `(GSD)` nkwa nna yɛ dɛn?

Obi a ɔwɔ glycogen storage yare (GSD) nkwa nna gu ahorow, na egyina ɔyare no ko, sɛnea wohu yare no ntɛm, ne sɛnea wodi ho dwuma yiye so. Ahorow bi betumi akum obi wɔ nkokoaabere mu, bere a afoforo nso betumi ama obi atra ase sɛnea ɛsɛ. Wo duruyɛfo betumi ama wo afotu a eye sen biara wɔ eyi ho.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wo anaa wo ba no nya ntini mu mmerɛwyɛ anaasɛ asikre a ɛba fam ho sɛnkyerɛnne a ɛkɔ so daa a, kɔ oduruyɛfo nkyɛn ntɛm ara.

Glycogen a wɔkora so nyarewa yɛ tebea horow a ɛntaa nsi na ɛyɛ den. Enti, sɛ ɛbɛyɛ yiye a, ɛbɛyɛ papa sɛ wobɛhwehwɛ oduruyɛfo a onim yare yi ne sɛnea wɔsa no. Wo ba no aduruyɛ kuw no bɛka wo ho wɔ anammɔn biara a wobɛtu de aboa wo ma woasi ayaresa a eye sen biara ama wɔn ho gyinae.

Nkrasɛm a Wɔde Kɔ Fie:

Enti, mewɔ anidaso sɛ seesei woanya ntease pa wɔ nea yɛaka ho asɛm, Glycogen Storage Disease (GSD) no ho. Ɛwom sɛ eyi yɛ asɛmti a emu yɛ den kakra de, nanso ɛho hia paa sɛ yɛkae nsɛntitiriw no.

Kae: GSD yɛ nyarewa kuw bi a wɔntaa nhu, a wonya fi awo mu a ɛma nipadua no mfa glycogen (yɛn nipadua mu asikre akorae) nni dwuma yiye.

• Nsɛnkyerɛnne atitiriw: Asikre a ɛba mogya mu mpɛn pii (hypoglycemia) ne ɔbrɛ ntɛmntɛm bere a wɔreyɛ apɔw-mu-teɛteɛ.
• Nea ɛde ba: Enzyme a enni nipadua mu a awosu mu nsakrae na ɛde ba.
• Sɛnea Wohu: Mogya mu nhwehwɛmu, nsu mu nhwehwɛmu, ultrasound, awosu mu nhwehwɛmu, ne ebia biopsy.
• Ayaresa: Nsɛnkyerɛnne a wɔde siw yare no ano ne ade titiriw. Aduan a wodi (titiriw atoko mu nsu), nnuru a wɔde ma sɛ ɛho hia a, ne enzyme replacement therapy (ERT) a wɔde ma wɔ ahorow bi ho.
• Ade a ɛho hia sen biara: Sɛ wuhu yare no ntɛm na wodi ho dwuma yiye a, ebetumi aboa wo ma woabɔ bra a ɛfata kɛse. Sɛ wowɔ sɛnkyerɛnne ahorow a, ntwentwɛn wo nan ase sɛ wobɛhwehwɛ aduruyɛ mu afotu.

Yɛwɔ anidaso sɛ saa nsɛm yi so bɛba wo mfaso. Kɔ so nya apɔwmuden!