Phenylketonuria

Phenylketonuria (PKU) yog ib yam kev mob uas tsis tshua muaj menyuam mos yug los es tsis muaj peev xwm los cais cov amino acid hu ua phenylalanine.

Phenylketonuria (PKU) yog cov qub txeeg qub teg, uas txhais tau tias nws dhau los ntawm cov tsev neeg. Ob leeg niam txiv yuav tsum theej cov ntawv theej tsis ua haujlwm txhawm rau tus menyuam kom muaj tus mob. Thaum muaj li no, lawv cov menyuam muaj 1 hauv 4 ntawm qhov yuav raug cuam tshuam.

Cov menyuam yaus nrog PKU ploj lawm qhov enzyme hu ua phenylalanine hydroxylase. Nws yog qhov xav tau los rhuav tshem cov tseem ceeb amino acid phenylalanine. Phenylalanine nyob hauv cov zaub mov uas muaj protein.

Yog tsis muaj qhov enzyme, qib phenylalanine ntau ntau hauv lub cev. Qhov kev txhim kho no tuaj yeem tsim kev puas tsuaj rau lub hauv nruab nrab cov hlab hlwb thiab ua rau lub hlwb tawg.

Phenylalanine ua lub luag haujlwm hauv lub cev tsim tawm ntawm melanin. Cov xim muaj lub luag haujlwm yog tawv thiab plaub hau xim. Yog li, cov menyuam mos uas muaj qhov mob feem ntau muaj tawv nqaij, plaub hau, thiab qhov muag dua li cov kwv tij lossis cov muam tsis muaj tus kabmob.

Lwm cov tsos mob tuaj yeem suav nrog:

• Ncua kev puas hlwb thiab kev txawj
• Lub taub hau loj npaum li cas me dua li ib txwm
• Lub Neej Tsis Raws Siab Xav
• Jerking txav ntawm caj npab los yog txhais ceg
• Kev mob hlwb
• Qaug dab peg
• Daim tawv nqaij ua pob
• Tus tsim hluav taws xob

Yog tias PKU tsis kho, lossis yog tias cov khoom noj muaj phenylalanine noj, ua pa, tawv nqaij, pob ntseg ntsej muag, thiab zis yuav muaj qhov "mousy" lossis "musty" ntxhiab. Qhov ntxhiab tsw yog vim ua rau kev tsim cov tshuaj phenylalanine hauv lub cev.

PKU tuaj yeem tshawb pom yooj yim nrog ntsuas cov ntshav ntsuas yooj yim. Txhua lub xeev hauv Tebchaws Meskas xav tau kev tshuaj ntsuam xyuas PKU rau txhua tus menyuam mos raws li ib feem ntawm qhov ntsuas menyuam mos. Qhov kev sim no feem ntau yog ntsuas los ntawm kev noj ob peb tee ntshav ntawm tus menyuam ua ntej tus menyuam tawm hauv tsev khomob.

Yog tias kev kuaj tshuaj pom qhov tseeb, yuav tsum kuaj ntshav ntxiv thiab tso zis ntxiv kom paub tseeb tias yog kuaj. Kev kuaj txog keeb kwm kuj ua tas.

PKU yog ib qho mob kho tau. Txoj kev kho mob cuam tshuam nrog cov khoom noj muaj txiaj ntsig rau phenylalanine tsawg, tshwj xeeb yog thaum tus me nyuam loj hlob zuj zus. Cov khoom noj yuav tsum yog ua raws cai. Qhov no yuav tsum muaj kev saib xyuas los ntawm tus kws qhia noj zaub mov lossis kws kho mob npe, thiab kev koom tes ntawm niam txiv thiab menyuam. Cov neeg uas noj cov zaub mov mus txuas ntxiv mus rau cov neeg laus muaj lub cev thiab lub hlwb zoo dua li cov uas tsis tau noj. "Noj zaub mov rau lub neej" tau dhau los ua tus qauv uas cov kws tshaj lij pom zoo. Cov poj niam uas muaj PKU yuav tsum ua raws li kev noj haus ua ntej xeeb tub thiab thoob plaws lub sijhawm cev xeeb tub.

Muaj cov phenylalanine ntau nyob rau hauv cov mis, qe, thiab lwm yam zaub mov noj. Cov khoom xyaw sweetener NutraSweet (aspartame) tseem muaj phenylalanine. Txhua yam khoom uas muaj cov tshuaj aspartame yuav tsum zam.

Muaj ntau ntau cov qauv tshwj xeeb ua rau menyuam yaus nrog PKU. Cov no tuaj yeem raug coj los ua cov khoom noj protein ntxiv uas tsis tshua muaj phenylalanine thiab ua kom haum rau cov amino acids tseem ceeb. Cov menyuam hnub nyoog loj thiab cov neeg laus tau siv cov mis sib txawv uas muab cov protein nyob hauv cov nyiaj uas lawv xav tau. Cov neeg nrog PKU yuav tsum noj mis mos txhua hnub rau lawv lub neej tag nrho.

Qhov tshwm sim tau cia siab tias yuav zoo yog tias kev noj zaub mov zoo tau ua raws, pib sai tom qab yug tus menyuam. Yog tias kev kho mob qeeb lossis tus mob tseem tsis kho, lub hlwb puas yuav tshwm sim. Tsev kawm ntawv kev ua haujlwm tej zaum yuav ua rau lub cev tsis tshua muaj siab.

Yog tias cov protein muaj phenylalanine tsis raug zam, PKU tuaj yeem ua rau lub hlwb puas hlwb los ntawm qhov kawg ntawm thawj xyoo ntawm lub neej.

Kev puas siab puas ntsws loj yog tshwm sim yog hais tias tsis kho. ADHD (kev saib xyuas-kev tsis txaus ntseeg lub hlwb) yog qhov teeb meem uas tshwm sim rau cov neeg uas tsis lo rau cov zaub mov muaj phenylalanine ntau.

Hu rau koj tus kws kho mob yog tias koj tus menyuam tsis tau raug kuaj rau PKU. Qhov no tseem ceeb heev yog tias ib tus hauv koj tsev neeg muaj tus mob no.

Kev tso tshuaj enzyme los yog kuaj caj ces tuaj yeem txiav txim siab yog tias cov niam txiv nqa cov gene rau PKU. Chorionic villus sampling lossis amniocentesis tuaj yeem ua tau thaum cev xeeb tub los kuaj cov menyuam hauv plab rau PKU.

Nws yog ib qho tseem ceeb heev uas cov poj niam nrog PKU ua raws nraim li kev noj haus tsawg kawg phenylalanine noj ob qho ua ntej ua kom cev xeeb tub thiab thoob plaws hauv cev xeeb tub. Buildup ntawm phenylalanine yuav ua kev puas tsuaj rau tus menyuam kev loj hlob, txawm hais tias tus menyuam tseem tsis tau yug tus kabmob tag nrho.

PKU; Neonatal phenylketonuria

• Phenylketonuria kev xeem
• Kev kuaj xyuas cov menyuam mos

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kev ua tsis taus ntawm cov metabolism hauv cov amino acids. Hauv: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 103.

Kumar V, Abbas AK, Aster JC. Kab mob caj thiab me nyuam yaus. Hauv: Kumar V, Abbas AK, Aster JC, eds. Robins Kev Txheej TxheemCov. 10 tus ed. Philadelphia, PA: Elsevier; 2018: chap 7.

Vockley J, Andersson HC, Antshel KM, li al; American College ntawm Medical Genetics thiab Genomics Pawg Kho Mob. Phenylalanine hydroxylase deficiency: kev txheeb xyuas thiab tswj kev qhia. Neej HmoobCov. Xyoo 2014; 16 (2): 188-200. PMID: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.