Yu pikin gɛt PKU? (Phenylketonuria) - Lɛ wi tɔk bɔt dis ditayli!

Yu na mama fɔ pikin we dɛn jɔs bɔn? Ɔ yu dɔn yɛri se sɔmbɔdi na yu famili ɔ yu padi in pikin gɛt dis sik? If na so i bi, dis atikul go rili impɔtant to yu. Tide wi go tɔk bɔt Phenylketonuria , ɔ PKU fɔ shɔt, wan sik we bɔku pipul dɛn dɔn yɛri bɔt ɛn nɔ yus to, bɔt i rili fayn fɔ no. Nɔ wɔri, wi go tɔk bɔt dis simpul wan, di we we yu go ɔndastand.

Wetin na PKU (Fɛnilkɛtonuria)? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, PKU na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dat min se na smɔl chenj we wi gɛt na wi jin dɛn kin mek i apin. Dis kin mek wi bɔdi nɔ ebul fɔ ol wan tin we dɛn kɔl phenylalanine fayn fayn wan .

Naw yu go mɔs de wɔnda wetin na phenylalanine. Na wan amino asid . Amino asid dεm lεk sכm sכm bildin blכk dεm we de εp fכ mek protin dεm. Fɛnilalanin de insay bɔku pan di it dɛn we wi de it, mɔ di wan dɛn we gɛt bɔku prɔtin. I de bak insay sɔm atifishinal switin dɛn lɛk aspartame .

nכmal wan, pan hεlty pכsin, dis fεnylalanin de brok dכn to di כmכnt we dεn nid εn prכsεs am di we we di bכdi kin abzכp am. Bɔt pan pɔsin we gɛt PKU, dis prɔses nɔ kin apin fayn fayn wan. afta dat, dis fεnylalanin de bigin fכ kכmכt na di bכdi. I tan lɛk paip we dɔn lɔk insay wata tank we ful-ɔp wit wata. Dis akumulεshכn na in de mek prכblεm. Mɔtalman, i kin afɛkt di we aw di bren de gro . If dɛn nɔ trit am, tin dɛn lɛk `intellectual disability` kin apin.

Difrɛn kayn PKU dɛn de?

Yes, sɔm kayn PKU de, i dipen pan aw i siriɔs. Di sayn dɛm bak kin difrɛn difrɛn wan fɔ di kayn sik, mɔr pan di wan dɛm wae nɔr de gɛt tritmɛnt.

Wi kin no tri men kayn dɛn:

• Klasik PKU: Dis na di fɔm we kin rili bad .
• Modaret ɔ mild PKU: Dis nɔ kin siriɔs smɔl.
• Mild hyperphenylalaninemia: Dis na di kayn we we nɔ kin rili bad . Ivin if dɛn nɔ gɛt tritmɛnt, dɛn pipul ya nɔ kin gɛt bɛtɛ prɔblɛm wit dɛn maynd.

Udat dɛn kin afɛkt mɔ pan dis PKU kɔndishɔn?

biכs PKU na jεnεtik, enibodi we gεt mכtεshכn na di tu kכpi dεm fכ di PAH jin kin divεlכp di kכndyushכn. Sɔm stɔdi dɛn dɔn sho se pipul dɛn we kɔmɔt na di Indian ɔ Yuropian famili kin gɛt di prɔblɛm smɔl.

Wan ɔda impɔtant tin na dat, mama we gɛt bɛlɛ we gɛt PKU we dɛn nɔ ebul fɔ kɔntrol, we min se i gɛt bɔku bɔku phenylalanine na in blɔd, kin gɛt pikin we nɔ gɛt PKU.I kin afɛkt di pikin in sɛns, i kin mek i nɔ bɔn am fayn, ɛn i kin mek i gɛt ɔda prɔblɛm dɛn. So, i rili impɔtant fɔ kɔntrol PKU we uman gɛt bɛlɛ.

Aw kɔmɔn tin fɔ PKU?

Frɔm di statystik dɛn we kɔmɔt na kɔntri dɛn lɛk Amɛrika, PKU kin afɛkt lɛk wan pan ɛvri 10,000 to 15,000 pikin dɛn we dɛn jɔs bɔn. Pan ɔl we i nɔ izi fɔ fɛn di rayt statystik bɔt dis na Sri Lanka, yu kin si dis kɔndishɔn ɛnisay na di wɔl.

Wetin na di sayn dɛm fɔ PKU? Nɔ panik, no dis!

Insay bɔku kɔntri dɛn, ivin sɔm ɔspitul dɛn na Sri Lanka, dɛn dɔn ɔlrɛdi du nyu bɔn pikin dɛn we dɛn jɔs bɔn fɔ no if dɛn gɛt PKU, ɛn dis kin mek i pɔsibul fɔ no di sik bifo di sik sho. So, di sik wae de kam pan pɔrsin wae gɛt dis sik kin rili smɔl naw.

Bɔt if dɛn nɔ no dis sik pan sɔm we dɛn ɔ if dɛn nɔ trit am, sɔm sayn dɛn kin sho. Dɛn tin ya na:

• Skin sik dɛn lɛk ɛkzema .
• di chenj na di skin εn/כ di ia kכla ( di skin εn di ia de layt pas כda famili mεmba dεm).
• di ed saiz smɔl pas di nɔmal (maykrosɛfali) .
• Wan musty smel we de kɔmɔt na di briz, di skin, ɔ di urine. I de smɛl lɛk sɔntin we dɔn ol.

Di sayn dɛm wae kin pasmak wae kin apun if dɛn nɔr trit am na:

• Prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de biev .
• divεlכpmεnt delay - dis min se di pikin in divεlכpmεnt maylston dεm, lεk fכ smayl, ol in ed כp, εn waka, de delay.
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual .
• Na smɔl tɛm nɔmɔ, yu kin gɛt sik lɛk ɛpilepshi .

Impɔtant: Mɛmba se bɔku pan dɛn sik ya kin apin nɔmɔ if dɛn nɔ trit am. Naw, we dɛn de chɛk di nyu bɔbɔ dɛn kin no dis kwik kwik wan, so natin nɔ de fɔ wɔri bɔt.

Wetin na di rial tin we kin mek pɔsin gɛt PKU?

di men tin we de mek PKU na di mכtεshכn na di tu kכpi dεm fכ di PAH jin na wi bכdi. dis PAH jin de instrakt wi bכdi fכ mek wan εnzym we dεn kכl fεnylalanin haydroksilayz . dis εnzym de kכnvכlt di amino asid fεnylalanin we wi de it to protin dεm we di bכdi kin yuz.

so, we dis PAH jin nכ de wok fayn, di εnzym nכ de prodyuz, כ i nכ de wok fayn. afta dat, di fεnylalanin we de kכmכt na di it de kכmכt na di bכdi. Wi bɔdi, mɔ di bren, kin rili fil fɔ gɛt bɔku bɔku phenylalanine. Na dat mek di bren kin pwɛl.

Aw PKU de pas tru di jin dɛm?

Wetin na PKU?wan jεnεtik kכndishכn we de inhεrit frכm mama εn papa to pikin dεm insay wan כtosom rεsεsiv patεn. Dis kin tan lɛk se na sayɛns wɔd smɔl, bɔt fɔ tɔk am simpul wan, na:

imajin, di jin we de mek PKU dεn kכl am "p". di hεlty jin dεn kכl am "P".

fכ divεlכp PKU, di pikin fכ gεt "p" jin frכm di mama εn di papa (dat min se i fכ bi "pp").

Bɔku tɛm, mama ɛn papa kin bi pipul dɛn we de kɛr dis PKU jin. dat min se, dεn kin gεt di jin as "Pp". Dɛn nɔ gɛt di sayn dɛm fɔ PKU, bikɔs di wɛlbɔdi "P" jin de wok. bכt, dεn kin pas da "p" jin de to dεn pikin dεm.

So, if di mama ɛn papa ɔl tu na pɔsin we de kɛr pikin (Pp x Pp), we dɛn gɛt pikin:

• 25% chans de fɔ mek pikin gɛt PKU (pp).
• 50% chans de fɔ mek di pikin bi pɔsin we de kɛr am (Pp) - nɔ gɛt ɛni simptom.
• 25% chans de fכ di pikin go gεt כl tu di hεlty jin dεm (PP) - nכ PKU, εn nכ bi kכriכ.

Na dat mek na sɔntin we nid fɔ kɔmɔt frɔm di mama ɛn papa dɛn ɔl tu.

Aw yu go no if yu gɛt PKU?

Bɔku tɛm, dɛn kin no PKU tru wan tɛst we dɛn kin du fɔ chɛk di pikin we dɛn jɔs bɔn, we dɛn kin du bitwin 24 ɛn 72 awa afta dɛn bɔn di pikin . Dis kin min fɔ chuk di pikin in il wit smɔl nidul ɛn tek sɔm drop blɔd . dis de chεk di lεvεl fכ fεnylalanin na di pikin in bכdi.

• If dɛn si se di pikin in blɔd lɛvɛl we gɛt phenylalanine bɔku, di dɔktɔ dɛn go du ɔda tɛst (blɔd ɔ urine tɛst) fɔ kɔnfɔm di PKU kɔndishɔn, ɛn bak fɔ no us kayn PKU i bi.
• biכs PKU na jεnεtik kכndishכn, dεn kin du jεnεtik tεst fכ no di εksakεt jin mכtεshכn we rispansabl fכ di simptom dεm.

If dɛn nɔ du di tɛst fɔ chɛk nyu bɔbɔ, dɛn kin no PKU pan ɛni ej, bɔt di mɔ we dɛn no am kwik, na di mɔ i go fayn.

Us tritmɛnt dɛn de fɔ PKU?

Tritmɛnt fɔ PKU na tin we pɔsin kin du fɔ ɔl in layf . Bɔt nɔ wɔri, if dɛn de manej am fayn, yu kin liv fayn layf. Di tritmɛnt kin inklud:

1. Speshal it: Dis na di tin we impɔtant pas ɔl. Yu nid fɔ it it we nɔ gɛt bɔku phenylalanine bɔt we gɛt ɔda tin dɛn we de mek yu bɔdi fayn .

2. Vitamin, minral, ɛn tin dɛn we yu kin yuz fɔ it: Dɛn tin ya nid fɔ gɛt di tin dɛn we yu nid, bikɔs we yu it it, dat kin mek yu nɔ gɛt sɔm tin dɛn we yu nid.

3. Mɛrɛsin: Dɛn kin gi sɔm pipul dɛn mɛrɛsin lɛk sapropterin dihydrochloride (Kuvan®) . dis de εp di bכdi fכ brok dכn di fεnylalanin.

4. Di drɔg we dɛn kɔl Pegvaliase (Palynziq®): .Pipul dɛm wae de tek dis mɛrɛsin kin it nɔrmal wan wae nɔr gɛt di spɛshal it wae dɛn kin it. dis de tek di ples fכ di εnzym we de brok dכn fεnylalanin we nכ de wok fayn na di bכdi fכ pipul dεm we gεt PKU.

If yu ɔ yu pikin gɛt PKU, yu fɔ wok wit yu dɔktɔ ɛn pɔsin we sabi bɔt it fɔ mek di bɛst tritmɛnt plan.

Us it dɛn gɛt phenylalanine? Lɛ wi no bɔt dɛn tin ya!

Pipul dεm we gεt PKU (unless dεn tek mεdikeshכn we dεn kכl `Pegvaliase`) nid fכ limited fכ it dεm we gεt hכy fεnylalanin. Dɛn tin ya kin de mɔ na it dɛn we gɛt bɔku prɔtin. Fɔ ɛgzampul:

• Milk ɛn tin dɛn we dɛn mek wit milk (chiz, yogɔt) .
• Eg dɛn
• Nat (lɛk pinat, kash) .
• Fish
• Fɔl
• Bif
• Ligim lɛk bins ɛn lentil
• Aspartame, we na atifishinal switin (dɛn kin de insay sɔm drink ɛn it dɛn we nɔ gɛt shuga) .

Speshal it de fɔ pɔsin we gɛt PKU?

Yɛs, na fɔ tru. Pɔsin we gɛt PKU (we nɔ de tek di drɔg `Pegvaliase`) fɔ fala it we nɔ gɛt bɔku prɔtin . Dɛn fɔ ridyus di it dɛn we gɛt bɔku prɔtin lɛk mit, fish, eg, ɛn tin dɛn we dɛn mek wit milk as dɛn ebul, ɔ dɛn fɔ stɔp am kpatakpata.

Bɔt dis nɔ izi lɛk aw i tan. Bikɔs prɔtin impɔtant fɔ di bɔdi. So, i rili impɔtant fɔ tɔk to dɔktɔ ɔ pɔsin we sabi bɔt it ɛn mek wan balans it we de gi ɔl di ɔda tin dɛn we di bɔdi nid. spεshal fכmula dεm de fכ bebi dεm we gεt PKU, we nכ gεt fεnylalanin, bכt stil gεt כda nyutriεnt dεm we nid.

Imajin, yu gɛt smɔl pikin na os wit PKU. Aw yu fɔ tek tɛm wit di it we yu de gi am? Yu fɔ luk ɛvri it paket ɛn fɛn ɔmɔs phenylalanine de insay. Na big sakrifays, bɔt i fayn fɔ di pikin in fiuja.

Yu tink se dɛn kin mek dɛn nɔ gɛt PKU?

Bikɔs PKU na jenɛtik, no we nɔ de fɔ mek dis sik nɔ apin.

Bɔt if yu de plan fɔ gɛt bɛlɛ, yu kin du jenɛtik kɔyl ɛn kɛr skan fɔ no if yu ɛn yu patna gɛt di PKU jin. Dis go ɛp yu fɔ ɔndastand yu risk fɔ gɛt pikin wit PKU.

Us kayn fiuja pɔsin we gɛt PKU kin ɛkspɛkt?

Dis na prɔblɛm we bɔku pipul dɛn gɛt. Pan ɔl we PKU na sik we pɔsin kin gɛt fɔ ɔl in layf, if dɛn manej am fayn, bɔku pipul dɛn kin liv wɛl, nɔmal layf.

• Afta dɛn dɔn no se di sik de, dɛn nid fɔ du blɔd tɛst ɔltɛm fɔ chɛk di phenylalanine lɛvɛl na di blɔd . Dis na aw yu go no if dɛn de fala di it fayn ɛn if di mɛrɛsin de wok fayn.
• Fɔ di wan dɛn we de pan it, na pɔsin we sabi bɔt itI kin rili ɛp fɔ wok klos wit dɛn. Dɛn kin tɛl yu ustɛm fɔ it, wetin fɔ avɔyd, ɛn aw fɔ gɛt di it we yu bɔdi nid.
• If uman we gɛt PKU gɛt bɛlɛ, in dɔktɔ ɛn di wan we de stɔdi bɔt it go wok togɛda fɔ mek wan spɛshal it plan we go mek shɔ se di mama gɛt di it we i nid ɛn we go mek i nɔ gɛt ɛni bad tin we go apin to di pikin.

Aw a go protɛkt misɛf/mi pikin frɔm PKU?

PKU diagnosis na wan kɔndishɔn fɔ yu layf, so i impɔtant fɔ de kɔntakt yu dɔktɔ ɔltɛm ɛn wach yu blɔd phenylalanine lɛvɛl.

• If yu de it, tek di vaytamɛn ɛn sɔpɔtmɛnt dɛn we yu nid fɔ mek di prɔtin we yu nɔ gɛt.
• Fɔ fala dis it fɔ di res ɔf yu layf. If nɔto dat, di sayn dɛn kin kam bak ɛn i kin denja fɔ yu wɛlbɔdi.
• If yu de tink bɔt fɔ mek famili, tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks , we go ɛp yu fɔ ɔndastand yu risk fɔ gɛt pikin we gɛt PKU.

Ustɛm yu fɔ go to dɔktɔ?

• If yu ɔ yu pikin gɛt sɔm sayn dɛn we gɛt fɔ du wit PKU (di wan dɛn we wi bin dɔn tɔk bɔt), go to dɔktɔ wantɛm wantɛm fɔ mek dɛn chɛk am ɔl.
• Bifo yu gɛt bɛlɛ, ɔ ali we yu gɛt bɛlɛ, yu kin aks yu dɔktɔ bɔt aw fɔ chɛk yu bɔdi , we kin ɛp yu ɛn yu patna fɔ no if yu de pan denja fɔ gɛt pikin we gɛt PKU.
• If yu gɛt PKU, go to yu dɔktɔ ɔltɛm fɔ mek dɛn du yu blɔd tɛst ɛn fɔ mek dɛn wach yu.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

If yu gɛt kwɛstyɔn bɔt PKU ɔ yu pikin in PKU stetɔs, nɔ fred fɔ aks. Na sɔm ɛgzampul dɛn ya:

• " Aw a go mek shɔ se mi pikin de gɛt di rayt it fɔ mek i gɛt wɛlbɔdi?"
• "Mi/mi pikin nid fɔ tek ɛni ɔda vaytamɛn ɔ nyutrishɔn sɔpɔtmɛnt?"
• "Di it we nɔ gɛt bɔku prɔtin na inof fɔ ridyus mi/mi pikin in phenylalanine lɛvɛl, ɔ a nid fɔ tek mɛrɛsin bak?"
• "Us tins a fɔ tek tɛm wit we a de pripia dis spɛshal it?"
• "If pikin de go skul, hau dem shud tel di skul abaut dia fud and drink?"

Fɔs, fɔ pik it dɛn we nɔ gɛt phenylalanine kin at smɔl, bɔt as yu de wok wit yu dɔktɔ ɛn pɔsin we sabi bɔt it, yu go yus to am.

Fɔ dɔn, sɔm impɔtant tin dɛn fɔ mɛmba (Take-Home Message) .

Pan ɔl we PKU na sik we pɔsin kin gɛt fɔ ɔl in layf, dɛn kin ebul fɔ kɔntrol am fayn fayn wan. Di men tin na fɔ no am kwik ɛn manej am fayn.

• Fɔ chɛk nyu pikin dɛn rili impɔtant. I kin no ɔda sik dɛn lɛk PKU kwik kwik wan.
• As yu kam fɔ no se yu gɛt PKU, mek shɔ se yu go to dɔktɔ ɛn to pɔsin we sabi bɔt it .
• Fɔ fala di it dɛn we yu de it ɛn if nid de, fɔ tek mɛrɛsin ɔlsay na yu layf impɔtant fɔ mek yu ɔ yu pikin in bren go bifo fayn fayn wan.
• Monitor yu phenylalanine levels wit rεgulεr bכdi tεst .
• Nɔto yu wan de. Fɔ kɔnɛkt wit ɔda pipul dɛn we gɛt PKU ɛn dɛn famili kin bi big sɔs fɔ trɛnk ɛn ɛnkɔrejmɛnt fɔ yu na sɔpɔt grup .
• If yu na mama ɔ papa fɔ pikin we gɛt PKU, tich yu pikin fɔ liv wit dis sik wit peshɛnt ɛn lɔv .

A op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand mɔ bɔt PKU (Phenylketonuria). Mɛmba se fɔ no na di bɛst wɛpɔn fɔ fɛt ɛni wɛlbɔdi prɔblɛm!

` PKU, Phenylketonuria, phenylalanine, jεnεtik sik dεm, nyu bכn pikin dεm, it, lכw protin it, nyu bכbi skrεnin