Phenylketonuria yog tus kab mob tshwj xeeb los ntawm kev tsis sib xyaw (lossis tsis yog kev zom zaub mov) ntawm phenylalanine.

Phenylalanine yog ib qho tseem ceeb amino acid nrog lub luag haujlwm tseem ceeb hauv lub paj hlwb los ntawm kev txhawb cov qog ua haujlwm. Nws kuj yog ib qho txuj ci txhawb nqa.Qhov amino acid no tsis tau tsim los ntawm lub cev thiab yog li yuav tsum tau muab by zaub mov. Qhov tseeb, phenylalanine yog ib qho ntawm txhua qhov khoom noj muaj protein ntau ntawm cov tsiaj thiab zaub keeb kwm: nqaij, ntses, qe, kua, mis, cheese, thiab lwm yam.

Nws yog ib qho kab mob uas tsis tshua muaj neeg thiab muaj kab mob uas muaj feem cuam tshuam rau cov ntxhais thiab tub, tsis muaj qhov tshwj xeeb ua ntej.

Yog tias tus kab mob tsis pom ntxov ntxov rau kev kho sai, kev sau ntau ntawm cov tshuaj no tuaj yeem tshwm sim hauv lub cev thiab tshwj xeeb hauv lub paj hlwb. Ntau dhau phenylalanine hauv lub hlwb txhim kho yog tshuaj lom.

Qhov ntau phenylalanine tam sim no hauv lub cev tau khiav tawm ntawm lub raum thiab yog li ntawd pom hauv tus neeg mob cov zis, hauv daim ntawv ntawm phenylketones. (2)

Hauv Fab Kis, kev tshuaj ntsuam xyuas phenylalanine yog qhov ua tau thaum yug: xeem Guthrie.

Qhov kis tau tus mob (tus naj npawb ntawm cov neeg muaj tus kab mob hauv cov pejxeem nyob rau lub sijhawm muab), nyob ntawm lub tebchaws txhawj xeeb thiab tuaj yeem sib txawv ntawm 1 /25 thiab 000 /1.

Hauv Fab Kis, qhov tshwm sim ntawm phenylketonuria yog 1 / 17. (000)

Tus kab mob no tau kho nrog cov zaub mov muaj protein tsawg los txo qib phenylalanine hauv tus neeg mob lub cev thiab txwv lub paj hlwb puas.

Kev kho tus kab mob thaum ntxov feem ntau tiv thaiv kev txhim kho cov tsos mob.

Ib qho ntxiv, kev kho lig ua rau muaj kev sib txuam ntawm cov molecule no hauv lub hlwb muaj qhov tshwj xeeb: (3)

- kev kawm nyuaj;

- kev coj tus cwj pwm tsis zoo;

- kab mob vwm;

- eczema.

Peb hom kab mob tau pom tom qab kuaj ntshav thaum yug: (2)

- phenylketonuria raug: nrog phenylalaninemia (qib phenylalanine hauv cov ntshav) ntau dua 20 mg / dl (lossis 1 μmol / l);

-atypical phenylketonuria: nrog qib ntawm 10 txog 20 mg / dl (lossis 600-1 µmol / l);

- Ntev mus ntev hyperphenylalaninemia (HMP) qhov twg phenylalaninemia tsawg dua 10 mg / dl (lossis 600 μmol / l). Daim ntawv ntawm tus kab mob no tsis loj thiab tsuas yog yuav tsum tau saib xyuas yooj yim txhawm rau zam kom tsis txhob muaj kev puas tsuaj ntxiv.

Kev kuaj mob thaum yug ua rau nws ua tau, feem ntau ntawm cov xwm txheej, txhawm rau txwv qhov pom ntawm cov tsos mob ntawm tus kab mob.

Kev kho tus kab mob raws li kev noj zaub mov tsis muaj protein ntau thiab kev saib xyuas ntawm phenylalaninemia kuj tseem pab tiv thaiv kev sib sau ntawm phenylalanine hauv lub cev thiab tshwj xeeb hauv lub hlwb. (2)

Yog tias tsis tau kuaj tus menyuam hauv plab, cov tsos mob ntawm phenylketonuria tshwm sim sai tom qab yug menyuam thiab tej zaum yuav mob hnyav dua lossis tsawg dua nyob ntawm daim ntawv tus kabmob.

Cov tsos mob no yog tus yam ntxwv los ntawm:

- ncua kev txhim kho kev xav ntawm tus menyuam;

- ncua kev loj hlob;

- microcephaly (qhov txawv me me ntawm pob txha taub hau);

- ntuav thiab tshee;

- eczema;

- ntuav;

- kev coj tus cwj pwm tsis zoo (hyperactivity);

- lub cev tsis zoo.

Nyob rau hauv cov ntaub ntawv ntawm hyperphenylalaninemia, kev hloov pauv hauv cov noob encoding co-factor rau hloov phenylalanine rau tyrosine (co-factor BHA) yog ua tau. Cov kev cuam tshuam no hauv kev tsim cov tyrosine ua rau:

- daim tawv nqaij ncaj ncees;

- plaub hau ncaj ncees

Phenylalanine yog ib qho kab mob caj ces. Nws ua rau autosomal recessive qub txeeg qub teg. Hom kev sib kis no txhawj xeeb txog autosome (tsis yog kev sib deev chromosome) thiab kev rov ua haujlwm tau ua rau xav tau rau qhov kev kawm kom muaj ob daim ntawv theej ntawm allele hloov pauv txhawm rau txhawm rau txhim kho cov kab mob muaj kab mob. (4)

Lub hauv paus ntawm tus kabmob yog kev hloov pauv ntawm PAH noob (12q22-q24.2). Cov noob no cim rau cov enzyme tso cai rau hydrolysis (kev puas tsuaj ntawm cov khoom los ntawm dej): phenylalanine hydroxylase.

Cov noob hloov pauv yog li ua rau txo qis hauv kev ua haujlwm ntawm phenylalanine hydroxylase thiab yog li ntawd phenylalanine los ntawm cov zaub mov tsis ua tiav los ntawm lub cev. Cov qib ntawm cov amino acid no hauv cov ntshav ntawm qhov cuam tshuam yog li ntawd tau nce. Tom qab qhov nce ntawm qhov ntau ntawm phenylalanine hauv lub cev, nws cov khoom cia yuav tshwm sim hauv cov kabmob sib txawv thiab / lossis cov nqaij, tshwj xeeb yog hauv lub hlwb. (4)

Lwm yam kev hloov pauv tau pom hauv kev sib raug zoo nrog tus kab mob. Cov no yog kev hloov pauv ntawm qib ntawm cov noob encoding BHA (co-factor rau kev hloov pauv ntawm phenylalanine rau tyrosine) thiab tshwj xeeb yog txhawj xeeb txog daim ntawv ntawm hyperphenylalaninemia. (1)

Qhov kev pheej hmoo cuam tshuam nrog tus kab mob yog caj ces. Qhov tseeb, kev kis tus kab mob no tshwm sim los ntawm kev hloov pauv autosomal recessive. Ib qho twg, tias muaj ob lub alleles hloov pauv rau cov noob yuav tsum muaj nyob hauv tus neeg los txhim kho tus kabmob.

Hauv qhov kev nkag siab no, txhua tus niam txiv ntawm tus neeg mob yuav tsum muaj daim ntawv theej ntawm cov noob uas hloov pauv. Vim tias nws yog daim ntawv rov ua dua, cov niam txiv uas tsuas muaj ib daim qauv ntawm cov noob uas tau hloov pauv tsis pom cov tsos mob ntawm tus kab mob. Txawm li cas los xij, lawv xav tau, txog li 50% txhua, rau txhua tus xa cov noob hloov pauv mus rau cov xeeb ntxwv. Yog tias leej txiv thiab leej niam ntawm tus menyuam txhua tus kis tus kabmob sib hloov, tus kawm yuav yog li ntawd muaj ob lub alleles hloov pauv thiab tom qab ntawd yuav tsim cov kab mob muaj kabmob. (4)

Kev kuaj mob ntawm phenylketonuria feem ntau yog ua los ntawm kev tshuaj xyuas kev yug menyuam: kev tshuaj xyuas menyuam yug tshiab. Nov yog qhov kev xeem Guthrie.

 Qhov kev ntsuas no suav tias yog qhov zoo yog tias qib ntawm phenylalanine hauv cov ntshav ntau dua 3 mg / dl (lossis 180 µmol / l). Hauv cov ntsiab lus ntawm phenylalaninemia ntau dhau, kuaj ntshav thib ob tau ua hauv lub chaw tshwj xeeb kom paub tseeb lossis tsis muaj phenylketonuria. Yog tias qib ntawm phenylalanine tseem ntau dua 3 mg / dl thaum lub sijhawm noj tshuaj thib ob thiab tsis muaj lwm yam kab mob muaj feem cuam tshuam tau raug txheeb xyuas, tom qab ntawv kuaj mob. (2)

Kev kuaj mob ntawm tus kabmob no yuav tsum yog qhov txawv ntawm qhov tsis muaj BH4. Qhov tseeb, tom kawg tshwj xeeb yog tus yam ntxwv ntawm hyperphenylalaninemia thiab yuav tsum tau saib xyuas yooj yim xwb. Thaum lub sijhawm kuaj pom tias muaj phenylketonuria hauv qhov kev kawm yuav tsum tau kho tshwj xeeb thiab noj zaub mov muaj protein tsawg. (1)

Thawj qhov kev kho mob rau phenylketonuria yog li ntawd kev noj zaub mov qis hauv phenylalanine, piv txwv li txo qis kev noj zaub mov kom muaj protein ntau. Kev noj zaub mov muaj protein tsawg yuav tsum tau ua kom sai li sai tau thaum kuaj menyuam yug tshiab. Nws yuav tsum tau ua raws thoob plaws hauv lub neej thiab tej zaum yuav ntau dua lossis tsawg nruj nyob ntawm cov ncauj lus thiab hom kab mob. (2)

Ntxiv rau qhov kev noj zaub mov no ploj hauv phenylalanine, sapropterin dihydrochloride tuaj yeem muab rau tus neeg mob kom nws txoj kev noj zaub mov tsis nruj dua, lossis txawm tias nws cov zaub mov tseem nyob li qub. (2)

Tsis tas li ntawd, cov khoom noj ntxiv nplua nuj nyob hauv cov amino acids (tsis suav nrog phenylalanine), cov vitamins thiab cov zaub mov tuaj yeem pom zoo txhawm rau txhawm rau rov ua kom tsis muaj qhov tsis sib xws hauv cov kev noj haus no vim yog kev noj haus no. (3)

Kev noj cov aspartame (cov khoom qab zib siv hauv ntau yam khoom xws li dej haus, kev npaj zaub mov, thiab lwm yam) yuav tsum zam rau cov neeg uas muaj phenylketonuria. Qhov tseeb, ib zaug absorbed, aspartame hloov hauv lub cev mus rau hauv phenylalanine. Hauv qhov kev nkag siab no, ua rau muaj kev pheej hmoo ntawm tsub zuj zuj ntawm cov molecule no hauv lub cev thiab muaj kev pheej hmoo ua rau muaj mob rau cov neeg mob. Aspartame kuj muaj nyob rau hauv ntau yam tshuaj, tshwj xeeb yog xav tau los ntawm cov neeg mob thaum noj cov tshuaj.

Hais txog kev tiv thaiv, txij li kev sib kis ntawm tus kab mob no yog keeb kwm, cov tsev neeg cuam tshuam los ntawm tus kab mob tuaj yeem tau txais kev pab thiab qhia tswv yim.

Kev kwv yees yog qhov sib txawv nyob ntawm tus neeg mob thiab hom kab mob.