Phenylketonuria ndi matenda omwe amadziwika ndi kusakhazikika (kapena non-metabolism) ya phenylalanine.

Phenylalanine ndi amino acid wofunikira kwambiri pantchito yamanjenje polimbikitsa chithokomiro. Amino acid sapangidwa ndi thupi motero amayenera kuperekedwa by chakudya. Zowonadi, phenylalanine ndi imodzi mwazakudya zomwe zili ndi mapuloteni amtundu wa nyama ndi masamba: nyama, nsomba, dzira, soya, mkaka, tchizi, ndi zina zambiri.

Ndi matenda osowa obadwa nawo omwe amakhudza atsikana ndi anyamata, osakhudzidwa kwenikweni.

Ngati matendawa sapezeka msanga kuti athe kuchiritsidwa mwachangu, kudzikundikira kwa chinthuchi kumatha kuchitika m'thupi komanso makamaka mumanjenje. Zambiri za phenylalanine muubongo womwe ukukula ndizowopsa.

Zowonjezera za phenylalanine zomwe zimapezeka mthupi zimachotsedwa ndi aimpso motero zimapezeka mkodzo wa wodwalayo, mawonekedwe a phenylketones. (2)

Ku France, kuyezetsa kwa phenylalanine kumachitika mwadongosolo pobadwa: Guthrie test.

Kukula (kuchuluka kwa anthu omwe ali ndi matendawa panthawi imodzi), kumadalira dziko lomwe likukhudzidwa ndipo kumatha kusiyanasiyana pakati pa 1/25 ndi 000/1.

Ku France, kuchuluka kwa phenylketonuria ndi 1 / 17. (000)

Matendawa amathandizidwa ndi zakudya zopanda mapuloteni kuti achepetse kuchuluka kwa phenylalanine mthupi la wodwalayo ndikuchepetsa kuwonongeka kwa ubongo.

Kuchiza koyambirira kwa matendawa nthawi zambiri kumalepheretsa kukula kwa zizindikilo.

Kuphatikiza apo, chithandizo cham'mbuyomu chomwe chimapangitsa kuti molekyuluyi ikwaniritsidwe muubongo chimakhala ndi zotsatirapo zake: (3)

- zovuta kuphunzira;

- zovuta zamakhalidwe;

- matenda akhunyu;

- chikanga.

Mitundu itatu ya matendawa yawonetsedwa pambuyo poyesedwa magazi pakubadwa: (2)

- phenylketonuria: ndi phenylalaninemia (mulingo wa phenylalanine m'magazi) woposa 20 mg / dl (kapena 1 μmol / l);

- atypical phenylketonuria: ndi mulingo wapakati pa 10 ndi 20 mg / dl (kapena 600-1 µmol / l);

- Permanent hyperphenylalaninemia (HMP) pomwe phenylalaninemia ndiyosakwana 10 mg / dl (kapena 600 μmol / l). Mtundu uwu wamatenda siwowopsa ndipo umangofunika kuwunika kosavuta kuti mupewe kukhumudwa kulikonse.

Kusanthula mwadongosolo pobadwa kumapangitsa kuti, nthawi zambiri, muchepetse mawonekedwe azizindikiro za matendawa.

Chithandizo cha matendawa chimachokera pa zakudya zopanda mapuloteni komanso kuwunika kwa phenylalaninemia kumathandizanso kupewa kuchuluka kwa phenylalanine mthupi makamaka muubongo. (2)

Zikadachitika kuti matenda a neonatal sanapangidwe, zizindikilo za phenylketonuria zimawoneka mwachangu atabadwa ndipo zimatha kuchepa kutengera mtundu wa matendawa.

Zizindikirozi zimadziwika ndi:

- kuchedwa kwa chitukuko cha mwana;

- kuchedwa kukula;

- microcephaly (chigaza chochepa kwambiri);

- kupweteka ndi kunjenjemera;

- chikanga;

- kusanza;

- zovuta zamakhalidwe (kusakhudzidwa);

- zovuta zamagalimoto.

Pankhani ya hyperphenylalaninemia, kusintha kwa majini komwe kumapangitsa kuti phenylalanine ikhale tyrosine (co-factor BHA) ndikotheka. Zisokonezo izi pakupanga tyrosine zimabweretsa ku:

- khungu loyera;

- tsitsi loyera.

Phenylalanine ndi matenda obadwa nawo. Zimabweretsa cholowa chambiri cha autosomal. Njira yotumizirayi imakhudzanso autosome (non-chromosome yosagonana) ndikubwezeretsanso zotsatira zake pakufunika koti mutuwo ukhale ndi magawo awiri omwe asinthidwa kuti apange matenda a phenotype. (4)

Chiyambi cha matendawa ndikusintha kwa mtundu wa PAH (12q22-q24.2). Jini iyi imayambitsa ma enzyme omwe amalola hydrolysis (kuwonongeka kwa chinthu ndi madzi): phenylalanine hydroxylase.

Jini losinthidwa limabweretsa kuchepa kwa ntchito ya phenylalanine hydroxylase motero phenylalanine kuchokera pachakudya sichimakonzedwa bwino ndi thupi. Mulingo wa amino acid m'mwazi wazomwe zakhudzidwa ukuwonjezeka. Kutsatira kuchuluka kwa phenylalanine m'thupi, kusungidwa kwake kudzachitika m'malo osiyanasiyana ndi / kapena minofu, makamaka muubongo. (4)

Zosintha zina zawonetsedwa mu ubale ndi matendawa. Izi ndizosintha pamlingo wamtundu womwe umasunga BHA (co-factor pakusintha kwa phenylalanine kukhala tyrosine) makamaka nkhawa ya hyperphenylalaninemia. (1)

Zowopsa zomwe zimakhudzana ndi matendawa ndizabadwa. M'malo mwake, kufalikira kwa matendawa kumachitika kudzera pakusinthiratu kwa autosomal. Mwina, kuti kupezeka kwa ma alleles awiri omwe amasinthidwa chifukwa cha jini kuyenera kupezeka mwa munthu kuti adwale matendawa.

Mwanjira imeneyi, kholo lililonse la wodwalayo liyenera kukhala ndi mtundu wa jini yomwe yasinthidwa. Chifukwa ndi mawonekedwe osinthika, makolo omwe ali ndi mtundu umodzi wokha wa jini losinthidwa samawonetsa zizindikiro za matendawa. Komabe, amafunikira, mpaka 50% iliyonse, kuti aliyense atumize mbewuyo kwa mwana. Ngati abambo ndi amayi a mwanayo atulutsa jini losinthika, mutuwo udzakhala ndi ma alleles awiriwo kenako ndikupanga matenda a phenotype. (4)

Matenda a phenylketonuria amapangidwa makamaka kudzera mu pulogalamu yowunikira kubadwa: kuwunika mwatsatanetsatane kwa akhanda. Uwu ndiye mayeso a Guthrie.

 Mayesowa amawoneka kuti ndi abwino ngati mulingo wa phenylalanine m'magazi uposa 3 mg / dl (kapena 180 µmol / l). Potengera kuchuluka kwa phenylalaninemia, kuyesa kwachiwiri kwa magazi kumachitika pamalo apadera kuti atsimikizire kapena ayi kukhalapo kwa phenylketonuria. Ngati mulingo wa phenylalanine udakalipo woposa 3 mg / dl pamlingo wachiwiri ndipo palibe matenda enanso omwe atenga nawo mbali, matendawa amapangidwa. (2)

Kuzindikira kwa matendawa kuyenera kusiyanitsidwa ndi kusowa kwa BH4. Zowonadi, zomalizazi ndizofunikira kwambiri pa hyperphenylalaninemia ndipo zimangofunika kuwunikira kosavuta. Pomwe kudziwika kwa kupezeka kwa phenylketonuria pamutuwu kumafunikira chithandizo chapadera komanso zakudya zochepa zomanga thupi. (1)

Chithandizo choyambirira cha phenylketonuria chifukwa chake ndi chakudya chochepa kwambiri cha phenylalanine, mwachitsanzo, kuchepetsa kudya kwa mapuloteni. Zakudya zochepa zamapuloteni ziyenera kuyambitsidwa akangoyesedwa kumene. Iyenera kutsatiridwa m'moyo wonse ndipo imatha kukhala yovuta kwambiri kutengera mutu ndi matenda. (2)

Kuphatikiza pa zakudya zomwe zatha mu phenylalanine, sapropterin dihydrochloride imatha kuperekedwa kwa wodwalayo kuti zakudya zake zizikhala zochepa, kapenanso kuti zakudya zake zizikhala zachilendo. (2)

Kuphatikiza apo, zakudya zowonjezera mavitamini amino acid (kupatula phenylalanine), mavitamini ndi michere zitha kulimbikitsidwa kuti zibwezeretse kusayenerera kulikonse chifukwa cha chakudyachi. (3)

Kugwiritsa ntchito aspartame (zotsekemera zopangira zogwiritsidwa ntchito muzinthu zambiri monga zakumwa za m'mafakitale, kuphika zakudya, ndi zina zotero) ziyenera kupewedwa mwamtheradi kwa anthu omwe ali ndi phenylketonuria. M'malo mwake, ikangoyamwa, aspartame imasinthidwa m'thupi kukhala phenylalanine. M'lingaliro limeneli, kumawonjezera chiwopsezo cha kudzikundikira kwa molekyulu m'thupi ndi chiopsezo kukhala poizoni kwa munthu wodwala. Aspartame imapezekanso m'mankhwala ambiri, chisamaliro chapadera kuchokera kwa odwala chimafunikira mukamagwiritsa ntchito mankhwala ena.

Pankhani yopewa, popeza kufalikira kwa matendawa ndikobadwa nako, mabanja omwe akhudzidwa ndi matendawa amatha kulandira thandizo ndi upangiri.

Kulosera kumasiyanasiyana malinga ndi wodwala komanso mawonekedwe a matendawa.