Yu dɔn ɛva wɔnda aw di tin dɛn we wi kin it ɛn drink kin gi wi bɔdi trɛnk ɛn bil wi bɔdi? Na wan rili wɔndaful prɔses, nɔto so? Bɔt sɔntɛnde, smɔl smɔl fɔlt dɛn na dis prɔses, dat na, difrɛns, kin apin frɔm we dɛn bɔn am. Na dat wi go tok abaut tide. Nɔ wɔri, dis kin tan lɛk kɔmplikɛt tɔpik, bɔt a go ɛksplen am simpul we we yu go ɔndastand.
Wetin na dɛn tin ya we dɛn kɔl Inborn Errors of Metabolism (IEM)?
Fɔ tɔk am simpul wan, mɛtabolism na di kemikal we de chenj di it we wi de it to ɛnaji ɛn pul di dɔti tin dɛn. I tan lɛk smɔl faktri insay wi bɔdi. Fɔ mek dis faktri wok fayn, i nid fɔ gɛt ɔl wetin i nid.
Naw, Inborn Errors of Metabolism (IEM) , we sɔm pipul dɛn kin kɔl inherited metabolic diseases, na wan grup ɔf kɔndishɔn usay di kemikal prɔses we a bin tɔk bɔt nɔ de du fayn. I tan lɛk we mashin na faktri, ɔ pɔsin we de wok pan am, nɔ de wok fayn. dis kin apin biכs sכ m εnzym dεm , we na spεshal protin dεm we de εp dεn kεmikכl prכsεs dεm ya, nכ de prodyuz fayn, כ biכs dεn nכ de wok fayn.
Us kayn mistek dɛn de?
Infakt, bɔku bɔku kayn mistek dɛn de we dɛn kin bɔn wit di mɛtabolism. Bɔku tɛm, dɛn kin gi dɛn sik ya in nem to di ɛnzaym we nɔ de wok fayn. Lɛ wi luk sɔm pan di kayn dɛn we pipul dɛn kin gɛt mɔ:
- Lysosomal storage disorders: Imajin se wi bɔdi gɛt smɔl smɔl faktri dɛm we de prosɛs west. Sɔmtɛm, pan sik dɛm we dɛn kɔl ``Lysosomal storage disorders,'' dɛn faktri dɛm nɔ kin wok fayn. Dɔn, pɔyzin dɔti we dɛn fɔ pul kin gɛda na di bɔdi. I tan lɛk se dɔti de gɛda na yu os if di dɔti trak nɔ kam. Fɔ ɛgzampul, sik dɛm lɛk ``Hurler syndrome,'' ``Gaucher disease,'' ɛn ``Tay-Sachs disease,'' de insay dis kategori.
- Maple syrup urine disease: Dis na di kכndyushכn we di amino asid dεm, we na di bεs bildin blכk dεm fכ di protin dεm, de bil na di bכdi. Dis kin pwɛl di nervɔs sistɛm ɛn mek di urine smɛl lɛk maple syrup. Dis na aw di sik gɛt in nem.
- Glycogen storage disease: Dis na we di bɔdi nɔ ebul fɔ kip di shuga (glucose) we de kɔmɔt na di it we wi de it fayn fayn wan. Dis kin mek di blɔd shuga nɔ bɔku.
- Di sik dɛn we de na di maytochondrial:di maytochכndria na sכm sכm sכm tin dεm we de εp di sεl dεm na wi bכdi fכ mek εnεji. pan dεn sik dεm ya, dεn maytochכndria dεm ya nכ de wok fayn, so di sεl dεm nכ kin prodyuz di enεji we dεn nid. Dis kin afɛkt di wok we bɔku impɔtant pat dɛn lɛk di bren, di mɔsul dɛn, di liva, ɛn di kidni dɛn de du.
- Pεroxisomal dizכrd dεm: Dis lεk di lysosomal stכrej sik dεm. Na ya, pɔyzin dɛn we de ambɔg pɔsin kin gɛda na di bɔdi.
- Metal mεtabolism dizayd: Wi bכdi gεt sכm sכm difrεn mεtal dεm. Bɔt pan dɛn sik ya, sɔm mɛtal dɛn kin gɛda na di bɔdi ɛn tɔn to pɔyzin. Fɔ ɛgzampul, pan Wilsin sik, kɔpa kin gɛda pasmak, ɛn insay ɛmokromatosis, ayɛn kin gɛda pasmak.
- Yuria saykl dizayd: Dis na we di bɔdi nɔ ebul fɔ pul wan pɔyzin we dɛn kɔl amonia fayn fayn wan, we kin gɛda na di blɔd ɛn mek prɔblɛm.
Udat dɛn tin ya kin afɛkt mɔ?
enibodi kin divεlכp dεn inborn mistek dεm ya fכ mεtabolism (IEM). Dis na bikɔs na di chenj dɛn we de apin na wi jin ɔ DNA kin mek dɛn. di jεnεtik kכz dεm we de afekt εvri tכp IEM difrεn. Bɔt if pɔrsin na yu famili gɛt dis sik, yu kin gɛt sɔm kayn tin lɛk dis smɔl.
Aw dɛn tin ya kɔmɔn?
כlsay na di wכl, dεn εstimat se lεk wan pan εvri 2,500 pikin dεm we dεn b כn kin gεt dis kayn mεtabolik difεkt we dεn bכn am. Dis min se dɛn tin ya nɔ kin bɔku so.
Aw dis mɛtabolik disɔda kin afɛkt di bɔdi?
Dɛn IEM kɔndishɔn ya kin afɛkt mɔ di ebul fɔ yuz dɛn nyutriɛnt ya fayn fayn wan we wi kin gɛt frɔm di it dɛn we wi de it ɛn drink:
- Kabohaydrɛt (stach ɛn shuga) .
- Shuga (glukɔs) .
- Protɛin we de mek pɔsin gɛt
- Fat dɛn we de na di bɔdi
So, di sayn dɛm fɔ dɛn sik ya kin afɛkt difrɛn ɔgan sistɛm dɛm na di bɔdi. Dɛn kin afɛkt bak aw pikin de gro, in sɛns, ɛn aw i kin ebul fɔ du wok dɛn ɛvride .
Wetin na di sayn dɛm fɔ dis?
Di sayn dɛm fɔ dɛn kayn mɛtabolik disɔda ya we dɛn bɔn kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Aw dis sik kin tranga kin difrɛn bak frɔm wan pɔrsin to ɔda pɔrsin. Sɔm sayn wae kin kam pan pɔrsin wae gɛt dis sik na:
- Divεlכ pmεnt dilay : Dis min se di intellektual εn fכshal abiliti dεm nכ de divεlכp di we we fit fכ di ej.
- We yu de lɔs yu wet ɔ yu go gɛt mɔ wet.
- Nɔ fɔ bi lɔng inof (Grɔw chalenj).
- Seizures : Dis min se yu kin gɛt tin dɛn we tan lɛk seizure.
- We pɔsin nɔ kin want fɔ it fayn .
- Lethargic, we kin taya ɔltɛm .
- Nɔmal ɔda tin dɛn we kin smɛl frɔm yu urine, swet, ɔ briz .
- Bɛlɛ pen, vɔmit.
Mɛmba se nɔr tink se yu gɛt wan sik jɔs bikɔs yu gɛt wan ɔ tu pan dɛn sik ya. Bɔt if dɛn sik ya kɔntinyu fɔ de, mɔ pan yɔŋ pikin, i impɔtant fɔ go to dɔktɔ. Sɔm pan dɛn tin ya kin mek pɔsin in layf de pan denja if dɛn nɔ trit dɛn fayn.
Wetin na di rizin dɛn we mek dɛn de du dis?
di men tin we kin mek dεn bכn dεn mεtabolik dεfεkt dεm ya (IEM) na di jεnεtik mכtεshכn . dis kin apin di tεm we di pikin de insay di bεlε, we di sεl dεm de sheb εn fכm nyu wan dεm.
sכm pan di jin dεm na wi bכdi de instrכkt di protin dεm fכ kכriכnt di kεmikכl riakshכn dεm we nid fכ di mεtabolik prכsεs afta wi it. spεshal protin dεm we dεn kכ l εnzym de du dεn kεmikכl riakshכn dεm ya.
naw, insay di bכdi fכ pכsin we gεt dis IEM kכndishכn, dεn εnzym dεm de nכ de gεt di instrכkshכn dεm we dεn nid fכ du dεn wok fayn fayn wan. Na dat mek dɛn sayn ya kin apin.
Aw yu no dɛn tin ya?
Bɔku tɛm, dɔktɔ dɛn kin no dɛn tin ya we kin apin we dɛn bɔn am bifo dɛn bɔn di pikin (we dɛn kin chɛk am bifo dɛn bɔn am) ɔ we dɛn de chɛk di pikin we dɛn jɔs bɔn . Insay Sri Lanka, dɛn kin tɛst ɔl di pikin dɛn we dɛn jɔs bɔn fɔ sɔm pan dɛn sik ya. Fɔ sɔm pipul dɛm, di sayn dɛm kin sho ivin afta dɛn dɔn big, ɛn na da tɛm de dɛn kin no di sik.
Us tɛst dɛn de du fɔ dis?
Bikɔs bɔku kayn IEM de, dɛn nid fɔ du difrɛn tɛst dɛn fɔ no di sik kɔrɛkt wan. Sɔm pan dɛn na:
- mεtabolik tεst: Dis involv fכ tek sεmpl blכd כ urine εn luk pan di patεn dεm na di amino asid dεm (di bildin blכk dεm fכ di protin dεm), fεt, εn glukכs (shuga) lεvεl. Dis kin ɛp fɔ no di kayn sik.
- Jɛnɛtik tɛst: Na ya, dɛn kin tek blɔd sɛmpul ɔ sampul saliva frɔm insay di mɔt ɛn tɛst fɔ si if di jin dɛn chenj.
- Amniocentesis: Dis na tεst we dεn kin du we uman bεlε. dεn tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin na di bεlε εn chεk fכ di jεnεtik abnכmaliti dεm.
- Glukɔs tɛst: Dɛn kin du dis fɔ chɛk yu blɔd shuga lɛvɛl. Dɛn kin du dis if yu gɛt sɔm sayn dɛm lɛk wae yu de taya ɔltɛm, yu de fil wik, ɔr yu gɛt fit.
- Ay ɛgzam: Sɔm IEM kɔndishɔn kin afɛkt di we aw pɔsin de si, so i fayn fɔ mek dɛn du ay ɛgzam.
Wetin na di tritmɛnt dɛm fɔ dis?
Di tritmɛnt fɔ di mɛtabolik disɔda we dɛn bɔn wit kin difrɛn difrɛn wan bay di kayn sik. Di men tritmɛnt dɛn na:
- Di chenj we yu de it: Bikɔs di bɔdi nɔ kin ebul fɔ yuz di tin dɛn we de insay sɔm it dɛn fayn fayn wan, if yu pul dɛn it dɛn de na di it, dat kin ɛp fɔ kɔntrol di sik dɛn we de sho se yu gɛt di sik. Sɔntɛnde, dis kin bi tin we pɔsin kin du fɔ ɔl in layf.
- Fɔ gi mɛrɛsin dɛn:Yu dɔktɔ kin gi yu sɔm mɛrɛsin dɛn fɔ ɛp yu mɛtabolism fɔ wok fayn fayn wan. Dɛn tin ya kin bi di tin dɛn we dɛn kin yuz fɔ chenj di ɛnzaym ɔ ɔda tin dɛn we dɛn kin yuz fɔ chenj di kemikal dɛn.
- Dayalaysis: Dis na we fɔ pul di pɔyzin we de na di blɔd. I kin nid fɔ du am pan sɔm imejensi dɛn.
- Ɔgan transplant: Insay sɔm siriɔs kes dɛm fɔ IEM, fɔ ɛgzampul, i kin nid fɔ transplant liva.
Di kayn mɛrɛsin dɛn we dɛn kin gi
De kayn mɛrɛsin wae dɛn kin gi kin difrɛn difrɛn wan fɔ di kayn sik. Sɔm ɛgzampul dɛn na:
- Glukɔs sɔlvushɔn
- Insulin `(Insulin)`
- Sodium benzoate ɔ sodium phenylacetate
- Amino asid sɔpɔtmɛnt dɛn
- Di riplesmɛnt fɔ di ɛnzaym
- Di tin dɛn we dɛn kin yuz fɔ it
Wetin na di sayd ɛfɛkt dɛn we pɔsin kin gɛt if dɛn nɔ trit am?
if dεn nכ mεnεj dεn mεtabolik dεfekt dεm ya we dεn bכn pikin dεm fayn fayn wan, di bכdi nכ kin ebul fכ yuz sכm it kכmכpכnεnt dεm fayn fayn wan, εn tכxik tin dεm kin gɛda na di bכdi, we kin mek i gεt siriכs kכndyushכn dεm lεk:
- Fɔ gɛt fit (Seizures) .
- di כgan dεm we de wok fayn (e.g. di liva, di kidni dεm) .
- Bren we dɔn pwɛl
Na dat mek i rili impɔtant fɔ no dɛn sik ya kwik kwik wan ɛn trit dɛn fayn fayn wan.
Aw fɔ liv wit di sayn dɛm?
We yu de liv wit dɛn IEM kɔndishɔn ya, sɔntɛnde yu kin fil taya ɛn taya. We di sayn dɛn de wɔs, i kin tranga fɔ du di wok dɛn we pɔsin kin du ɛvride. Di tin we impɔtant pas ɔl na fɔ fala di tritmɛnt plan we yu dɔktɔ gi yu. I rili impɔtant fɔ jɔs it tin dɛn we fayn fɔ yu bɔdi ɛn we yu go ebul fɔ prosɛs fayn fayn wan.
Sɔntɛnde, i kin tranga fɔ stik to yu dɔktɔ in it, mɔ if na it we rili stɔp yu fɔ it. If na so i bi, tɔk to yu dɔktɔ ɔ pɔsin we sabi bɔt it fɔ ɛp yu fɔ ajɔst to dis nyu we aw yu de it.
Yu tink se dɛn go ebul fɔ stɔp dɛn tin ya?
Infakt, dɛn nɔ kin ebul fɔ avɔyd dɛn bad bad tin ya we dɛn kin bɔn bikɔs ɔf di chenj dɛn we dɛn kin gɛt na in jɛnɛtiks. Bɔt if yu plan fɔ gɛt famili, yu kin tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks ɛn if nid de , yu kin tɔk bɔt aw fɔ tɛst yu jɛnɛtiks . Dis go ɛp yu fɔ ɔndastand yu risk fɔ gɛt pikin wit dis jenɛtik kɔndishɔn.
Aw layf go tan lɛk wit dis sityueshɔn?
Nɔr mɛrɛsin nɔr de fɔ dɛn kayn mɛtabolik disɔda ya we dɛn bɔn wit (IEM). Di kayn bad bad sik wae yu gɛt go sho yu tumara bambay. Sɔm IEM kɔndishɔn kin rili denja if pɔyzin gɛda na di blɔd we di bɔdi nɔ ebul fɔ pul.
Bɔt,If dɛn no di sik kwik kwik wan, dɛn trit am fayn, ɛn dɛn chenj di we aw dɛn de liv dɛn layf, bɔku pipul dɛn kin liv nɔmal, gladi at.
Ustɛm yu fɔ go to dɔktɔ?
If yu sik de wɔs pan ɔl we yu de fala di tritmɛnt we yu dɔktɔ tɛl yu fɔ du, mek shɔ se yu go to dɔktɔ. If yu gɛt bɛlɛ, aks yu dɔktɔ bɔt aw fɔ chɛk yu pikin bifo yu bɔn ɛn we yu jɔs bɔn we go ɛp fɔ chɛk fɔ si if dɛn bɔn yu pikin ya.
Di tin we impɔtant pas ɔl: If yu ɔ yu pikin gɛt sik we de mek yu sik, go na di ɔspitul imejensi rum we de nia yu wantɛm wantɛm.
Kwɛshɔn dɛn fɔ aks yu dɔktɔ/dɔktɔ
If yu kam fɔ no se yu ɔ sɔmbɔdi na yu famili gɛt dis kayn sik we dɛn kin gɛt frɔm yu mama ɛn papa, yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk:
- Us kayn hεridita mεtabolik sik mi/mi pikin gεt?
- Aw layf go tan lɛk wit dis sik?
- Wetin go gɛt fɔ du wit mi tritmɛnt plan?
- Us prɔblɛm dɛn we a fɔ wɔri bɔt mɔ?
- Aw dis kin afɛkt mi layf ɛvride?
- Sɔpɔt grup de wae yu kin mit ɔda pipul dɛm wae gɛt dis sik wae nɔr kin bɔrku?
Fɔ dɔn, na sɔm tin dɛn we wi fɔ mɛmba
Okay, so lɛ wi mɛmba yu bak bɔt sɔm pan di tin dɛn we wi bin tɔk bɔt we yu tink se impɔtant pas ɔl.
- di mistek dεm we wi kin bכn fכ mεtabolism (IEM) na kכndishכn dεm we de kכz fכ jεnεtik fכs we de intafεr di prכsεs fכ kכnvכlt di it we wi de it to enεji εn fכ pul west prodakt dεm.
- Bɔku bɔku kayn sik dɛn de we tan lɛk dis, ɛn ɛni wan pan dɛn gɛt difrɛn sayn ɛn tritmɛnt.
- Fɔ no di sik kwik kwik wan ɛn fɔ gɛt di rayt tritmɛnt na di men tin, bikɔs dis kin ɛp bɔku pipul dɛn fɔ liv bɛtɛ layf.
- We yu chenj di it we yu de it, di mɛrɛsin we yu de tek, ɛn sɔntɛnde ɔda patikyula tritmɛnt dɛn kin ɛp fɔ kɔntrol dɛn sik ya.
- If yu gɛt ɛni dawt ɔ kwɛstyɔn, nɔ fred fɔ tɔk to yu dɔktɔ.
A op se dis infɔmeshɔn go ɛp yu. Mɛmba se nɔto yu wangren de. Dɔktɔ, pipul dɛn we sabi bɔt it, ɛn sɔpɔt grup dɛn de fɔ ɛp di wan dɛn we de liv wit dɛn sik ya.
` mεtabolik dizכrd, jεnεtik sik, εnzym, dijeshכn, pikin sik, jεnεtik tεst, mεtabolism
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