Phenylketonuria (PKU) yog dab tsi? Cov tsos mob thiab kev kho mob

Phenylketonuria (PKU)yog ib yam kab mob uas tsis tshua muaj tshwm sim uas ua rau muaj cov amino acid hu ua phenylalanine los tsim hauv lub cev. Amino acids yog lub tsev blocks ntawm cov protein. Phenylalanine Nws muaj nyob rau hauv tag nrho cov proteins thiab qee cov khoom qab zib.

Phenylalanine hydroxylase yog ib qho enzyme uas lub cev siv los hloov phenylalanine rau tyrosine, uas lub cev xav tau los tsim cov neurotransmitters xws li epinephrine, norepinephrine, thiab dopamine.

Phenylketonuriayog tshwm sim los ntawm qhov tsis xws luag hauv cov noob uas pab tsim phenylalanine hydroxylase. Thaum cov enzyme no ploj lawm, lub cev tsis tuaj yeem zom phenylalanine. Qhov no ua rau phenylalanine tsim nyob rau hauv lub cev.

Cov menyuam mos raug kuaj PKU sai tom qab yug menyuam. Kev kuaj mob ntxov thiab kev kho mob, phenylketonuria cov tsos mob tuaj yeem txo thiab tiv thaiv lub hlwb puas.

Cov tsos mob ntawm Phenylketonuria yog dab tsi?

PKU cov tsos mob tuaj yeem nyob ntawm qhov mob me mus rau qhov hnyav. Hom mob hnyav tshaj plaws ntawm tus kab mob no classical phenylketonuria hu ua. 

Tus menyuam mos uas muaj PKU classic yuav zoo li qub rau thawj ob peb lub hlis ntawm lub neej. Thaum lub sij hawm no tus me nyuam phenyltonuria Yog tias tsis kho, nws yuav pib tsim cov tsos mob hauv qab no:

- qaug dab peg

- tshee

- Kev loj hlob tsis txaus

- Hyperactivity

- Eczema kab mob ntawm daim tawv nqaij xws li

-Mus tsw tsw ntawm pa, tawv nqaij los yog zis

Phenylketonuria Yog tias nws tsis kuaj pom thaum yug los thiab kev kho mob tsis pib sai, tus kab mob tuaj yeem ua rau:

- Kev puas hlwb tsis txaus ntseeg thiab kev tsis taus ntawm kev txawj ntse hauv thawj ob peb lub hlis ntawm lub neej

- Cov teeb meem coj tus cwj pwm thiab qaug dab peg hauv cov menyuam yaus

Ib daim ntawv hnyav dua ntawm PKU hu ua variant PKU lossis non-PKU hyperphenylalaninemia. Qhov no tshwm sim thaum tus menyuam lub cev muaj phenylalanine ntau dhau lawm.

Cov menyuam mos uas muaj tus kab mob no tsuas muaj cov tsos mob me me xwb, tab sis lawv yuav tsum tau ua raws li kev noj zaub mov tshwj xeeb kom tsis txhob muaj kev puas hlwb.

Thaum pib noj zaub mov tshwj xeeb thiab lwm yam kev kho mob tsim nyog, cov tsos mob pib qis. Phenylketonuria noj zaub movCov neeg uas tswj kev mob caj dab rheumatoid kom raug feem ntau tsis pom cov tsos mob.

Dab tsi ua rau Phenylketonuria?

Phenylketonuria kab mobyog ib qho mob tshwm sim los ntawm qhov tsis xws luag hauv PAH gene. PAH noob pab tsim phenylalanine hydroxylase, enzyme lub luag haujlwm rau kev tawg ntawm phenylalanine.

Ib qho txaus ntshai tsim ntawm phenylalanine tuaj yeem tshwm sim thaum ib tus neeg noj cov zaub mov muaj protein ntau xws li qe thiab nqaij.

Rau ib tug me nyuam kom tau txais tus kab mob no, ob niam txiv yuav tsum muaj qhov tsis zoo ntawm PAH gene. Yog tias tsuas yog ib tus niam txiv dhau ntawm cov noob no, tus menyuam yuav tsis muaj cov tsos mob, tab sis yuav yog tus kabmob ntawm cov noob.

Hom phenylketonuria yog raws li nram no;

Qhov hnyav ntawm phenylketonuria txawv nyob ntawm seb hom.

Classic PKU

Hom kab mob hnyav tshaj plaws yog hu ua classic PKU. Lub enzyme xav tau los hloov phenylalanine ploj lawm lossis txo qis heev, ua rau muaj phenylalanine siab thiab ua rau lub hlwb puas.

Tsawg dua cov ntaub ntawv ntawm PKU

Nyob rau hauv cov ntaub ntawv me me los yog nruab nrab, cov enzyme khaws cia qee yam ntawm nws cov haujlwm, yog li phenylalanine qib tsis siab, txo qhov kev pheej hmoo ntawm kev puas hlwb tseem ceeb.

Txawm li cas los xij, feem ntau cov menyuam yaus uas muaj tus kab mob no nyuaj los tiv thaiv kev tsis taus ntawm kev txawj ntse thiab lwm yam teeb meem. phenylketonuria kev noj haus yuav tsum ua raws

Kev xeeb tub thiab Phenylketonuria

Phenylketonuria Cov poj niam cev xeeb tub thiab cev xeeb tub yog qhov txaus ntshai rau lwm hom mob hu ua niam PKU. 

poj niam ua ntej thiab thaum cev xeeb tub phenylketonuria kev noj hausYog tias lawv tsis ua raws li qhov zoo, cov ntshav phenylalanine tuaj yeem nce thiab ua mob rau tus menyuam hauv plab los yog ua rau nchuav menyuam.

Txawm tias cov poj niam uas tsis tshua muaj mob hnyav ntawm PKU, phenylketonuria kev noj hausKev ua tsis tau raws li yuav ua rau lawv cov menyuam hauv plab muaj kev pheej hmoo.

Cov me nyuam yug los rau cov niam uas muaj phenylalanine siab feem ntau phenylketonuria kab mobLawv tsis tau qub txeeg qub teg. Txawm li cas los xij, yog tias leej niam cov ntshav qib phenylalanine siab thaum cev xeeb tub, nws tuaj yeem ua rau muaj qhov tshwm sim loj. Cov teeb meem thaum yug los muaj xws li:

- Tsawg yug hnyav

- Kev txhim kho qeeb

- ntsej muag txawv txav

- Lub taub hau me me txawv txav

– Mob plawv thiab lwm yam teeb meem plawv

- kev puas hlwb

– Cov teeb meem coj cwj pwm 

Dab tsi yog Cov Yam Tseem Ceeb rau Phenylketonuria Disease?

Kev pheej hmoo rau kev xeeb tub phenylketonuria yog:

Ob leeg niam txiv muaj cov noob tsis zoo uas ua rau PKU

Ob tug niam txiv yuav tsum dhau ib daim qauv ntawm cov noob tsis zoo rau lawv tus menyuam txhawm rau txhim kho tus mob.

muaj ib haiv neeg tshwj xeeb

Phenylketonuria kab mobCov noob tsis xws luag uas ua rau mob rheumatoid sib txawv los ntawm pawg haiv neeg thiab tsis tshua muaj nyob hauv African-Asmeskas dua li lwm haiv neeg.

Phenylketonuria Disease Complications

tsis kho phenylketonuria kab mobtuaj yeem ua rau muaj teeb meem rau cov menyuam mos, menyuam yaus, thiab cov neeg laus uas muaj qhov tsis zoo.

Nrog phenylketonuria Thaum cov niam muaj ntshav siab phenylalanine thaum cev xeeb tub, fetal yug tsis xws luag lossis nchuav menyuam tuaj yeem tshwm sim.

tsis kho phenylketonuria kab mob tuaj yeem ua rau:

- Kev puas hlwb tsis txaus ntseeg thiab kev tsis txaus ntseeg tseem ceeb pib hauv thawj ob peb lub hlis ntawm lub neej

Neurological teeb meem xws li qaug dab peg thiab tshee

- Cov teeb meem coj tus cwj pwm, kev xav thiab kev sib raug zoo ntawm cov menyuam yaus thiab cov neeg laus

- Cov teeb meem tseem ceeb ntawm kev noj qab haus huv thiab kev loj hlob

Kev tshuaj xyuas Phenylketonuria

Phenylketonuria (PKU) Test

Tus kws kho mob siv ob peb tee ntshav los ntawm tus menyuam lub pob taws mus kuaj PKU thiab lwm yam kab mob caj ces. Kev tshuaj ntsuam xyuas yog ua tiav thaum tus menyuam muaj hnub nyoog ib mus rau ob hnub thiab tseem nyob hauv tsev kho mob.

Kev ntsuam xyuas ntxiv tuaj yeem ua tiav kom paub meej tias qhov tshwm sim thawj zaug. Cov kev ntsuam xyuas no nrhiav pom muaj PAH noob hloov uas ua rau PKU. Cov kev ntsuam xyuas no feem ntau ua tiav rau lub lis piam tom qab yug me nyuam.

Yog tias tus menyuam lossis tus neeg laus pom cov tsos mob ntawm PKU, xws li kev loj hlob qeeb, tus kws kho mob yuav xaj kom kuaj ntshav kom paub meej tias qhov kev kuaj mob. Qhov kev sim no suav nrog kev kuaj ntshav thiab tshuaj xyuas nws rau qhov muaj cov enzyme xav tau los rhuav tshem phenylalanine.

Kev Kho Mob Phenylketonuria

Phenylketonuria Cov neeg mob ntshav qab zib tuaj yeem txo cov tsos mob thiab tiv thaiv cov teeb meem los ntawm kev ua raws li kev noj zaub mov tshwj xeeb thiab noj tshuaj.

Phenylketonuria Kev Noj Qab Haus Huv

Txoj hauv kev tseem ceeb los kho PKU yog nrog kev noj zaub mov tshwj xeeb uas txwv cov khoom noj uas muaj phenylalanine. Cov menyuam mos uas muaj PKU tuaj yeem pub niam mis.

Lawv kuj yuav tsum tau noj cov mis tshwj xeeb, feem ntau hu ua Lofenalac. Thaum tus me nyuam muaj hnub nyoog txaus noj cov khoom noj, nws yog ib qho tseem ceeb kom tsis txhob cia lawv noj cov zaub mov muaj protein ntau. Cov khoom noj no yog:

- Qe

- Cheese

- Hazelnut

- Mis

- Taum

- Qaib

- Nqaij nyuj

- Cov ntses

Nws yog ib qho tseem ceeb kom nco ntsoov tias PKU cov phiaj xwm noj mov txawv ntawm ib tus neeg mus rau lwm tus. Cov neeg uas muaj PKU yuav tsum tau ua haujlwm ze nrog tus kws kho mob lossis kws kho mob kom paub meej qhov sib npaug ntawm cov as-ham thaum txwv tsis pub noj phenylalanine.

Lawv kuj yuav tsum tau saib xyuas cov qib phenylalanine los ntawm kev khaws cov ntaub ntawv ntawm cov phenylalanine hauv cov khoom noj uas lawv noj txhua hnub. 

tshuaj

PKU kev kho mob Sapropterin (Kuvan) yog siv rau Sapropterin pab txo qis qib phenylalanine.

Cov tshuaj no yuav tsum tau siv nrog rau ib qho kev npaj noj mov tshwj xeeb PKU. Txawm li cas los xij, nws tsis zoo rau txhua tus neeg nrog PKU. Nws muaj txiaj ntsig zoo dua rau cov menyuam yaus uas muaj mob me me ntawm PKU.

Thaum twg koj yuav tsum mus ntsib kws kho mob?

Hauv cov xwm txheej no, nws yuav tsum tau nrhiav kev pab kho mob:

cov menyuam yug tshiab

Yog tias niaj hnub kev tshuaj ntsuam xyuas tus menyuam yug tshiab qhia tau hais tias tus menyuam yuav muaj PKU, tus menyuam tus kws khomob yuav xav pib kev noj zaub mov tam sim ntawd txhawm rau tiv thaiv teebmeem mus ntev.

cov poj niam uas muaj hnub nyoog me nyuam

Nws yog ib qho tseem ceeb tshwj xeeb tshaj yog rau cov poj niam uas muaj keeb kwm ntawm PKU mus ntsib kws kho mob ua ntej thiab thaum cev xeeb tub thiab tswj kev noj zaub mov PKU kom txo tau qhov kev pheej hmoo ntawm cov ntshav siab phenylalanine yuav ua mob rau lawv tus menyuam hauv plab.

Cov neeg laus

Cov neeg uas muaj PKU tseem tau txais kev saib xyuas thoob plaws hauv lawv lub neej. Cov neeg laus uas muaj PKU uas txwv tsis pub noj PKU thaum puberty yuav tsum mus ntsib kws kho mob.

Rov qab mus rau kev noj zaub mov tuaj yeem txhim kho kev puas siab puas ntsws thiab kev coj tus cwj pwm thiab ua rau kev puas tsuaj rau lub hauv paus paj hlwb uas tuaj yeem tshwm sim los ntawm qib siab phenylalanine.

Cov neeg uas muaj phenylketonuria;

Cov neeg mob phenylketonuriatsis ntev tom qab yug me nyuam phenylketonuria khoom noj khoom haus Yog tias lawv ua raws li nws txoj kev npaj ze, yuav tsis muaj teeb meem.

Thaum kuaj thiab kho tau qeeb, lub hlwb puas tuaj yeem tshwm sim. Kev puas hlwb yuav tshwm sim. Tsis kho PKU tuaj yeem ua rau:

- Kev txhim kho qeeb

- Cov teeb meem coj tus cwj pwm thiab kev xav

Neurological teeb meem xws li tshee thiab qaug dab peg

Yuav Tiv Thaiv Phenylketonuria?

Phenylketonuria yog ib yam mob caj ces, yog li tsis tuaj yeem zam tau. Txawm li cas los xij, kev ntsuam xyuas enzyme tuaj yeem ua rau cov tib neeg npaj yuav muaj menyuam.

Qhov kev ntsuam xyuas enzyme no yog kev kuaj ntshav uas tuaj yeem txiav txim siab yog tias ib tus neeg nqa cov noob tsis zoo uas ua rau PKU. Qhov kev sim kuj tseem tuaj yeem ua tau thaum cev xeeb tub los tshuaj xyuas cov menyuam mos hauv plab rau PKU.

Phenylketonuria Yog tias koj ua li ntawd, koj tuaj yeem tiv thaiv cov tsos mob los ntawm kev ua raws li kev npaj noj zaub mov tsis tu ncua thoob plaws koj lub neej.