He aha te Phenylketonuria? Tohutohu, Take, me te Maimoatanga

Ko te Phenylketonuria, e kiia ana ko te PKU, he āhuatanga tuku iho onge kaore e taea e tō tinana te wawahi tika i te amino waikawa e kiia nei ko te phenylalanine. Kei roto i te maha o ngā kai whai pūmua te amino waikawa nei, pēnei i te mīti, te hua manu, me ngā hua waiū.

Ki te pēhea te tangata he PKU, ka hanga te phenylalanine ki roto i ōna toto, ā, ka taea te pakaru i te roro ki te kore e tukatuka. Ko te rongo pai, mā te kite wawe mā te whakamātautau whānau hou me te whakahaere kai tika, ka taea e ngā tāngata he PKU te noho ora noa, ora hauora.

He aha te Phenylketonuria?

Ka puta te PKU ina ngaro, kāore rānei i te iti rawa tetahi enzyme e kiia nei ko te phenylalanine hydroxylase. Whakaarohia tēnei enzyme hei kaimahi motuhake nāna te mahi ki te huri i te phenylalanine hei amino waikawa ke e kiia nei ko te tyrosine ka taea e tō tinana te whakamahi haumaru.

Kaore he enzyme nui, ka kohikohi te phenylalanine ki roto i ō toto me ō kiko. He kino te nui o te phenylalanine ki ngā pūtau roro, ina koa i te wā o te whānau me te tamarikitanga ina kei te whanake tonu te roro.

E pā ana te PKU ki te 1 i roto i te 10,000 ki te 15,000 o ngā pepeha i whānau mai i te United States. Kei te noho mai i te whānau, ā, me whakahaere mō te ora, engari mā te tiaki tika, kāore e tika kia ārai i te mea ka taea e koe te whakatutuki i te ora.

He aha ngā tohu o te Phenylketonuria?

Ko ngā pepeha i whānau mai me te PKU ka ahua noa katoa i te whānau. Heoi, ka taea te whanake i ngā tohu i roto i ngā marama tuatahi ki te kore e kitea, kāore rānei e tukatuka te āhuatanga.

Koinei ngā tohu wawe ka puta pea i ngā pēpi he PKU kaore i te tukatuka:

• Te ngoikore hinengaro e kitea ana i te wa roa
• Te whakaroa o te whanaketanga i te noho, te ngāwari, te haere rānei
• Ngā raruraru whānau pēnei i te hyperactivity, te tukino rānei
• Ngā hopu, ngā wiri rānei
• Ngā pupuhi kiri, te eczema rānei
• Te kakara kawa, te kakara kiore rānei ki te manawa, te kiri, te mimi rānei
• Te kiri mā, te tae makawe rānei na te iti o te whakaputa melanin
• Te rahi o te upoko iti atu i ētahi atu tamariki o tō rātou tau

Ka puta te kakara kawa nā te nui o te phenylalanine e huri ana ki ētahi atu wāhanga e whakakorea ana e tō tinana mā te mimi me te werawera. Ka taea te aukati katoa i ēnei tohu ina kitea wawe te PKU, ā, ka whakahaeretia tika.

I etahi wā, ka taea e ngā tāngata tetahi momo PKU ngawari kaore e puta he tohu kino, engari he mea nui tonu te tirotiro kai. Koia te take i nui ai te whakamātautau whānau hou mō te hopu i ngā momo katoa o te āhuatanga.

He aha ngā momo Phenylketonuria?

Ehara te PKU i tetahi āhuatanga anake, engari he maha ngā mate e pā ana e pā ana ki te tukatuka o tō tinana i te phenylalanine. Ko te rerekētanga matua i waenga i ngā momo ko te nui o te mahi enzyme e toe ana i roto i tō tinana.

Ko te PKU tino nui te momo tino kino, kei reira he iti rawa te mahi enzyme phenylalanine hydroxylase. Me whai i te kai iti-phenylalanine tino kaha mō te ora katoa ngā tāngata he PKU tino nui.

Ka puta te PKU ngawari, te hyperphenylalaninemia kore-PKU rānei ina he mahi enzyme kei te toe. Ka hiahia pea koe ki ngā huringa kai, engari he iti ake te ārai i te nuinga atu i ētahi e hiahiatia ana mō te PKU tino nui.

He momo onge ano e kiia nei ko te PKU kino, te PKU rerekē rānei, e pā ana ki ngā raruraru ki ētahi atu enzyme e hiahiatia ana hei whakahoki i te cofactor e āwhina ana i te mahi a te phenylalanine hydroxylase. He uaua ake te tukatuka i tēnei momo, ā, pea kaore e pai te whakautu ki ngā huringa kai anake.

He aha ngā take o te Phenylketonuria?

Ka puta te PKU nā ngā huringa (mutations) i roto i te PAH gene, e whakarato ana i ngā tohutohu mō te hanga i te enzyme phenylalanine hydroxylase. Ka whiwhi koe i tēnei āhuatanga tuku iho i ō mātua.

Hei whanake i te PKU, me whiwhi koe i ngā kape e rua o te gene i hurihia, tētahi i ia mātua. E kiia ana tēnei ko te tuku iho autosomal recessive. Ki te whiwhi koe i tetahi kape kua hurihia, he kaimau koe, engari kāore koe e pā te PKU.

Ina he kaimau ngā mātua e rua, he 25% te tūponotanga o ia haputanga ka puta he tamaiti he PKU, he 50% te tūponotanga o te whānau he tamaiti kaimau, he 25% te tūponotanga o te whānau he tamaiti kāore he mutations. Kāore he tohu i te nuinga o ngā kaimau, ā, he taumata phenylalanine noa.

Neke atu i te 1,000 ngā mutations rerekē i roto i te PAH gene kua kitea. Ka whakakore katoa etahi mutations i te mahi enzyme, engari ka whakaiti etahi ki ngā taumata rerekē, e whakamārama ana i te take ka rerekē te kaha o te PKU i waenga i ngā tangata.

Nōhea te haere ki te taakuta mō te Phenylketonuria?

I te nuinga o ngā whenua whanaketanga, ka whakamātautauhia ngā pēpi katoa mō te PKU i roto i ngā rā tuatahi o te ora, na reira ka mohio koe ki te āhuatanga i mua i te puta mai o ngā tohu. Ki te whakamātautau pai tō pēpi, ka tohatohahia koe ki tetahi tohunga tonu.

Me whakapiri atu koe ki tō kaiwhakarato hauora tonu ki te whakaatu to tamaiti i ētahi tohu o ngā whakaroa whanaketanga, ngā huringa whānau, te kakara kawa rānei, ina koa ki te kore i mahia te whakamātautau whānau hou, ki te manukanuka rānei koe ki ngā hua whakamātautau.

Me whai tirotiro tonu ngā pakeke he PKU i roto i ō rātou oranga. Whakapiri atu ki tō taakuta ki te raruraru koe ki te pupuri i tō kai, ki te wheako i ngā huringa ngākau, ki te whakahaere rānei i ngā raruraru aro, na te mea ka tohu pea ēnei kei te nui rawa te taumata phenylalanine.

Me whai tiaki motuhake ngā wāhine he PKU e whakaaro ana ki te hapu. Ka taea e ngā taumata phenylalanine te kino i te pēpi e whanake ana, ahakoa kāore te pēpi he PKU.

He aha ngā take tūponotanga mō te Phenylketonuria?

Ko te take tūponotanga matua mō te PKU ko te whai i ngā mātua e mau ana i ngā mutations i roto i te PAH gene. Mai i te tuku iho o te PKU, ko tō papamuri ira te mea nui rawa e whakatau ana i tō tūponotanga.

He nui ake te nui o ngā kaimau PKU i etahi roopu iwi. He maha ake te āhuatanga i roto i ngā tāngata o te tīpuna Pākehā, ā, he iti ake i roto i ngā tāngata o te tīpuna Āwherika, Hīpānika, Āhia rānei, ahakoa ka puta i roto i tetahi roopu iwi.

Ka taea hoki e ngā take whenua te awe i te tūponotanga. He nui ake te nui o ngā kaimau i etahi taupori kua motuhaketia, pēnei i ētahi i Ireland, na te mea e kiia ana e ngā tohunga ira ko te "founder effect."

Ko te whai i te hītori whānau o te PKU, te whanaungatanga rānei ki tetahi he āhuatanga, ka piki ake tō tūponotanga ki te kaimau. Ka taea e te tohutohu ira te āwhina iā koe ki te mārama ki tō tūponotanga whaiaro me ō kōwhiringa whakatōpūtanga whānau.

He aha ngā raruraru pea o te Phenylketonuria?

Ina whakahaeretia tika te PKU mai i te whānau, ka taea te aukati katoa i te nuinga o ngā raruraru. Heoi, ki te kore e tukatuka, ki te kore rānei e whakahaeretia pai, ka taea e te PKU te arahi ki ngā raruraru roa.

Ko te raruraru tino kino ko te ngoikore hinengaro, ka taea te kino, kaore e taea te whakahoki mai ki te mau tonu te taumata phenylalanine teitei i te wa e whanake ana te roro. Ka puta pea tēnei ina kore e kitea te PKU, kāore rānei e tukatuka i roto i ngā marama tuatahi o te ora.

Koinei ētahi atu raruraru pea o te PKU kaore i te whakahaeretia:

• Ngā raruraru whānau me ngā mate hinengaro tae atu ki te ADHD, te manukanuka, te pouri rānei
• Ngā mate hopu pea ka uaua te whakahaere
• Ngā wiri me ētahi atu raruraru nekehanga
• Ngā whakaroa tipu me te rahi o te tinana iti atu i te toharite
• Ngā raruraru kiri tae atu ki te eczema me ngā pupuhi
• Ngā hapa ngākau i etahi wā onge
• Ngā raruraru wheua me te piki o te tūponotanga whati

Ahakoa he pai te whakahaere kai, ka taea e ētahi pakeke he PKU te wheako i ngā pānga hinengaro iti, ngā huringa ngākau rānei ki te kore e pai ō rātou taumata phenylalanine. Ka āwhina te tirotiro tonu ki te aukati i ēnei take.

He take nui te mate PKU o te whaea mō ngā wāhine he PKU e hapu ana. Ka taea e ngā taumata phenylalanine teitei te puta i ngā hapa whānau, te ngoikore hinengaro, me ngā raruraru ngākau i te pēpi, ahakoa he PKU te pēpi.

Me pēhea te whakatau i te Phenylketonuria?

Ko te whakatau matua o te PKU ko te whakamātautau whānau hou, e whakauru ana i te tango i tetahi tauira toto iti i te rekereke o tō pēpi i roto i ngā haora 24 ki te 48 i muri i te whānau. Ka ine tēnei whakamātautau i ngā taumata phenylalanine i roto i te toto.

Ki te whakaatu te whakamātautau tuatahi i ngā taumata phenylalanine teitei, ka mahia ngā whakamātautau atu hei whakau i te whakatau. Ka uru pea ēnei ki ngā whakamātautau toto, ngā whakamātautau mimi, me te whakamātautau ira hei kite i ngā mutations motuhake e pā ana.

Ka ine hoki ngā taakuta i ngā taumata tyrosine, ā, ka tatau i te tauwehenga phenylalanine-ki-tyrosine, e āwhina ana ki te whakatau i te kaha o te āhuatanga, ā, e arahi ana i ngā whakatau maimoatanga. I etahi wā, ka mahia ngā whakamātautau hei ine tika i te mahi enzyme.

I etahi wā onge kaore i mahia te whakamātautau whānau hou, kāore rānei i te tino marama, ka taea te whakatau i te PKU i muri mai ina puta mai ngā tohu. Ka taea e ngā whakamātautau toto me te mimi te kite i ngā taumata phenylalanine teitei i tetahi tau.

Ka tūtohu pea te tohutohu ira me te whakamātautau whānau hei kite i ngā kaimau me te whakarato i ngā mōhiohio mō ngā whakatau whānau a muri ake nei.

He aha te maimoatanga mō te Phenylketonuria?

Ko te maimoatanga matua mō te PKU ko te whai i te kai iti-phenylalanine kua whakaritea tika i roto i tō oranga katoa. Ko te tikanga tenei ko te whakakore, te karo rānei i ngā kai he nui te pūmua, na te mea kei roto i te pūmua te phenylalanine.

Ka mahi koe me tetahi kaiwhakahaere kai kua rehitatia nāna te tohunga ki te PKU hei hanga i te mahere kai e whakamana ana i ō hiahia kai katoa me te pupuri i ngā taumata phenylalanine i roto i te tawhiti haumaru. Ko te tikanga tenei ko te kai i ngā hua, ngā huawhenua, me ngā kai iti-pūmua motuhake.

He wāhanga nui o te maimoatanga PKU ngā pūtau rongoā motuhake me ngā tāpiri. Ka whakaratohia e ēnei te pūmua, ngā huaora, me ngā kohuke e hiahia ana koe kaore he phenylalanine. Ko te nuinga o ngā tāngata he PKU e whakawhirinaki ana ki ēnei pūtau hei puna pūmua matua.

He mea nui ngā whakamātautau toto tonu hei tirotiro i ō taumata phenylalanine me te whakarite i tō kai kia rite ki te hiahia. Ka taea pea ēnei whakamātautau i ia wiki i te wā o te whānau, katahi ka iti ake te maha ina pakeke koe, ā, ka pumau ō taumata.

Ka taea e ētahi tāngata he momo PKU ngawari te whai hua i te rongoā e kiia nei ko te sapropterin (Kuvan), e taea ai te piki i te mahi o te enzyme e toe ana. Heoi, kāore tēnei rongoā e mahi mō te katoa, ā, e whakamahia ana i te nuinga o te wā me te whakahaere kai.

Mō ētahi he momo PKU tino kino, kei te rangahauhia ngā maimoatanga hou pēnei i te rongoā whakakapi enzyme me te rongoā ira, ahakoa kāore ēnei i te whānui.

Me pēhea te whakahaere i te PKU i te kāinga?

Ko te whakahaere i te PKU i te kāinga e hiahia ana ki te whakarite me te aro nui ki ngā kōrero, engari ka noho hei mahi noa mā te mahi. Ko te matua ko te ako ki te pānui i ngā tohu kai me te mārama ki ēhea kai e haumaru ana te kai.

Pupuri i te puka kai hei aroturuki i tō kai phenylalanine me te āwhina ki te kite i ngā tauira ki te piki ake ō taumata toto. He maha ngā tāngata e kite ana he whai hua ngā taupānga waea atamai mō te tatau i te phenylalanine kei roto i ngā kai.

Whakaritea tō kīhini me ngā kai PKU-hoa pēnei i ngā paraoa, ngā pasta, me ngā paraoa iti-pūmua. He maha ngā kamupene kai motuhake e hanga ana i ngā hua i whakaritea motuhake mō ngā tāngata he PKU e reka ana, ā, e ngāwari ai te whakarite kai.

Whakaritea ngā kai i mua ki te taea, ā, kia mau tonu ngā kai reka haumaru. Ka āwhina tēnei ki te aukati i ngā āhuatanga ka whakamātau koe ki te kai i ngā kai ka piki ake ō taumata phenylalanine.

Tangohia tō pūtau rongoā, ngā tāpiri rānei kia mau tonu, ahakoa kāore koe e pai ki te reka. Ka whakaratohia e ēnei ngā matūkai nui kaore e taea e koe te whiwhi mai i tō kai ārai anake.

Me pēhea te whakarite mō tō hui taakuta?

I mua i tō hui, kohikohia ō hua whakamātautau toto hou me te puka kai ki te pupuri koe i tētahi. Ka āwhina ēnei mōhiohio i tō rōpū hauora ki te mārama ki te pai o te mahi o tō mahere maimoatanga o nāianei.

Tuhia ētahi tohu kua wheakohia e koe, ngā huringa i tō hiahia kai, ngā wero rānei e pa ana ki tō kai. Ahakoa ngā huringa iti ka taea te nui mō te whakahaere tika i te PKU.

Whakaritea tētahi rārangi o ngā pūrongo mō tō maimoatanga, pēnei i te mea he whakapaipai ki tō kai, he kōwhiringa maimoatanga hou rānei me whakaaro koe.

Ki te whakaaro koe ki te hapu, ki te tango i ngā rongoā hou, ki te whakatau i ngā huringa ora nui, korerohia ēnei ki tō rōpū hauora. Ka taea e rātou te āwhina iā koe ki te whakarite i tō mahere maimoatanga kia rite ki te hiahia.

Kawea mai tētahi mema whānau, tētahi hoa rānei ki te hiahia koe ki te tautoko, ina koa ki te korero koe i ngā whakatau maimoatanga uaua, ki te ngāwari rānei koe ki te whakahaere i tō āhuatanga.

He aha te mea nui mō te Phenylketonuria?

He āhuatanga tuku iho nui te PKU, engari he mea nui hoki tetahi o ngā mate tuku iho e taea te tukatuka pai ina kitea wawe. Mā te whakahaere kai tika me te tiaki hauora, ka taea e ngā tāngata he PKU te noho ora noa, ora hauora.

Ko te mea nui rawa hei mahara ko te kite wawe me te tukatuka mau tonu te mea nui rawa. Mā ngā kaupapa whakamātautau whānau hou, ka kitea, ka tukatuka te nuinga o ngā pēpi he PKU i mua i te puta mai o tetahi kino.

Ahakoa te whai i te kai iti-phenylalanine e hiahia ana ki te whakaute me te whakarite, he mea tino whakahaeretia mā te tautoko me ngā rauemi tika. He maha ngā tāngata he PKU e arahi ana i ngā mahi angitu, he whānau, ā, e whakauru ana ki ngā āhuatanga katoa o te ora.

Ki te pā te PKU ki a koe, ki tetahi e aroha ana koe rānei, kia mahara kei te noho koe kotahi. He whatunga tautoko pai, he kaiwhakarato hauora motuhake, me ngā kōwhiringa maimoatanga e pai haere ana e wātea ana hei āwhina iā koe ki te ora.

Ngā pūrongo e ui ana mō te Phenylketonuria

Ka taea e ngā tāngata he PKU te kai i ngā kai noa?

Ka taea e ngā tāngata he PKU te kai i ngā kai "noa" maha, engari me tīpako ratou ki ngā puna pūmua. He pai te nuinga o ngā hua me ngā huawhenua, ā, he putanga iti-pūmua motuhake o ngā paraoa, ngā pasta, me ētahi atu mea nui. Ahakoa kāore e taea e ratou te kai i ngā kai nui-pūmua pēnei i te mīti, te ika, te hua manu, me te waiū i ngā rahinga noa, ka taea e ratou te maha o ngā wāhanga iti, i te whakatau ki ō rātou taumata manawanui.

He rongoā te PKU?

I tēnei wā, kāore he rongoā mō te PKU, engari he mea tino taea te tukatuka. Ka taea e te kai iti-phenylalanine me te whakahaere hauora te aukati katoa i ngā raruraru kino e pā ana ki te āhuatanga. Kei te mahi ngā kairangahau ki ngā rongoā pea, tae atu ki te rongoā ira me ngā maimoatanga whakakapi enzyme, engari he whakamātautau tonu ēnei.

Ka taea e ngā wāhine he PKU te whānau tamariki hauora?

Ae, ka taea e ngā wāhine he PKU te whānau tamariki hauora, engari e hiahia ana ki te whakarite me te tirotiro hauora tino tika. Me whakatutuki, me pupuri hoki e rātou ngā taumata phenylalanine tino iti i mua i te hapu me te ora katoa o te haputanga. Ko te tikanga tenei ko te whai i te kai ārai atu i te mea noa, engari mā te whakahaere tika, ka taea te whakaiti nui i te tūponotanga o ngā hapa whānau.

E pā ana te PKU ki te roa o te ora?

Ina whakahaeretia tika mai i te whānau, kāore te PKU e pā nui ki te roa o te ora. Ka taea e ngā tāngata he PKU whakahaeretia pai te ora roa rite ki tetahi atu. Ko te matua ko te pupuri i te whakahaere kai pai me te tirotiro hauora tonu i te ora katoa.

He aha te mea ka puta ki te kai he kai nui-pūmua tetahi he PKU?

Ko te kai i ngā kai he nui te phenylalanine i etahi wā kāore e puta he kino tonu, engari ka taea te piki ake o ngā taumata phenylalanine toto. Ka puta pea tēnei i ngā tohu poto pēnei i te raruraru ki te aro, ngā huringa ngākau, ngā mamae pūkau rānei. Ko te mea nui ko te hoki ki te ara tika me te kai tika me te whakamōhio i tō rōpū hauora, ka tūtohu pea ratou ki te tirotiro toto atu.