He aha te Ngāwhā o te MCAD? Ngā Tōmhā, Ngā Take, me te Maimoatanga

Ko te ngāwhā o te MCAD he āhuatanga tuku iho onge kaore e taea e tō tinana te wawahi tika i ētahi ngako hei kaha. Ka puta mai tēnei nā te kore rānei, te iti rānei o tetahi enzyme e kiia nei ko te medium-chain acyl-CoA dehydrogenase, e āwhina ana ki te huri i ngā ngako hei wahie ka taea e ō pūtau te whakamahi.

Whakaarohia he waahanga matua e ngaro ana i roto i te tukanga hanga kaha o tō tinana. Ina kore koe i kai mō tētahi wā, kāore rānei i te pēhea, ka whakawhiti tonu tō tinana ki te tahuna ngako kua rongoā hei kaha. Ki te ngāwhā o te MCAD, kāore tēnei pūnaha tautoko e mahi tika ana, ā, ka āhei te arahi ki ngā raruraru nui ki te kore e whakahaeretia pai.

He aha ngā tōmhā o te ngāwhā o te MCAD?

Ka puta ngā tōmhā o te ngāwhā o te MCAD i te wā e hiahia ana tō tinana ki te whakamahi ngako hei kaha, ina koa i ngā wā kaore he kai, kāore rānei i te mate. Ka puta mai te nuinga o ngā tōmhā i ngā pēpi me ngā tamariki iti, ahakoa ka puta mai i muri mai i te ora.

Ko ēnei ngā tōmhā matua ka kitea e koe:

• Te moe nui rawa atu, te uaua rānei ki te ara
• Te ruaki e kore e mutu
• Te kore kaha, te ngoikore rawa atu rānei
• Te riri, te rerekētanga rānei o te whāinga
• Ngā raruraru manawa, te tere o te manawa rānei
• Ngā hopu i ngā take kino
• Te ngaro o te mohio, te coma rānei

Ka puta mai ngā tōmhā nei i te wā kaore he kai te tamaiti mō ngā haora maha, kei te whawhai rānei i te mate, kāore rānei e taea te pupuri kai.

I ētahi wā onge, ko te tohu tuatahi pea ko te mate ohorere o te pēpi (SIDS), koia te take i nui ai te whakamātautau pēpi mō tēnei āhuatanga. Heoi, mā te whakahaere tika, ka taea e ngā tamariki e ngāwhā ana i te MCAD te ora i te ora noa, hauora.

He aha ngā take o te ngāwhā o te MCAD?

Ko te ngāwhā o te MCAD te take i ngā huringa i roto i te kiripuaki ACADM, e whakarato ana i ngā tohutohu mō te hanga i te enzyme MCAD. Ka riro i a koe tēnei āhuatanga i ō mātua mā ō kiripuaki, rite tonu ki te rironga mai o te tae kanohi, te teitei rānei.

Mō tetahi tangata kia ngāwhā i te MCAD, me riro mai e rua ngā kape o te kiripuaki i hurihia – tētahi i te matua, tētahi i te whaea. E kiia ana tēnei ko te tuku iho autosomal recessive. Ki te kotahi noa te kape i hurihia e koe, he kaikawe koe, kāore pea he tōmhā.

Ina he kaikawe ngā mātua e rua, he 25% te tūponotanga i ia haputanga ka ngāwhā te tamaiti i te MCAD. He 50% te tūponotanga ka kaikawe te tamaiti, rite tonu ki ngā mātua, he 25% te tūponotanga e kore e riro mai he kape i hurihia.

Ko te huringa kiripuaki tino noa e puta ai te ngāwhā o te MCAD e kitea ana i te 1 i roto i te 15,000 ki te 20,000 o ngā whānau i ngā tāngata o te whenua o te Raki o Ūropi. He rerekē ngā reiti o ētahi atu tauiwi, ā, ka taea e te āhuatanga te pā ki ngā tāngata o tetahi momo iwi.

Nōhea te haere ki te taote mō te ngāwhā o te MCAD?

Mēnā kua whakamātautauhia tō tamaiti mō te ngāwhā o te MCAD mā te whakamātautau pēpi, me mahi ngātahi koe me tetahi tohunga metabolic, ahakoa i mua i te puta mai o ngā tōmhā. Ko te tiaki hauora wawe te matua ki te aukati i ngā raruraru nui.

Me rapu awhina hauora tūturu koe mēnā ka whakaatu tō tamaiti i ētahi o ēnei tohu whakatūpato:

• Te moe nui rawa atu, te uaua rānei ki te ara
• Te ruaki e haere tonu ana mō ngā haora maha atu i te torutoru
• Te whakakahore ki te kai, ki te inu rānei mō ngā haora maha
• Ngā raruraru manawa, te uaua rānei ki te manawa
• Tetahi mahi hopu
• Te ngaro o te mohio, te kore whakautu rānei

Kaua e tatari kia pai ake ngā tōmhā. Ka taea e te ngāwhā o te MCAD te puta i te mate metabolic e hiahia ana ki te maimoatanga tūturu me ngā wai IV e wātea ana te huka.

Me whakapiri atu hoki koe ki tō rōpū hauora i ngā wā katoa e mate ana tō tamaiti, ahakoa he mea noa, penei i te mate huka, te mate puku rānei. Ka whakanuia e te mate te tūponotanga o ngā raruraru, ā, ka hiahia pea tō taote ki te tirotiro i tō tamaiti, ki te whakarereke rānei i tōna kaupapa kai.

He aha ngā take tūponotanga mō te ngāwhā o te MCAD?

Ko te take tūponotanga matua mō te ngāwhā o te MCAD ko te whai mātua e kaikawe ana i te huringa kiripuaki e puta ai tēnei āhuatanga. Nā te mea he mate tuku iho tēnei, ko te hītori whānau te mea nui rawa atu hei whakaaro.

Ka taea e ētahi āhuatanga te whakaoho i ngā tōmhā i tetahi kua ngāwhā i te MCAD:

• Te kore kai mō te roa rawa (te nohopuku)
• Te whai i tetahi mate, ina koa he kirika, he ruaki rānei
• Te pēhanga tinana nui ake, te kaha rānei
• Te whakaū ki ngā pāmahana makariri
• Te tango i ētahi rongoā e pā ana ki te metabolism

Kei te tūponotanga nui ngā pēpi me ngā tamariki iti mō ngā raruraru, nā te mea he iti ake ngā pūkaha kaha, kāore rānei e taea te kōrero ina kore rātou e pai.

Ka pā te āhuatanga ki ngā tāngata o ngā iwi katoa, ahakoa he tino noa i ngā tāngata o te Raki o Ūropi, ina koa ko Scandinavia. Heoi, kua kitea ngā huringa kiripuaki e puta ai te ngāwhā o te MCAD i ngā tāngata mai i ngā papamuri rerekē puta noa te ao.

He aha ngā raruraru pea o te ngāwhā o te MCAD?

Ina kore e whakahaeretia tika te ngāwhā o te MCAD, ka taea te arahi ki te mate metabolic, he mate tūturu tēnei. Ka puta mai tēnei ina kore e taea e tō tinana te whakaputa kaha, ka hangaia ngā mea kino i roto i tō toto.

Ko ngā raruraru tino kino ka uru atu:

• Te iti rawa o te huka toto (hypoglycemia)
• Te hanga o ngā mea kino i roto i te toto
• Te pupuhi o te roro, te pakaru rānei mai i ngā mea kino
• Ngā raruraru ate, te nui rānei
• Ngā raruraru i te tere o te ngākau
• Te coma, te ngaro rānei o te mohio
• I ētahi wā onge, te mate ki te kore e maimoatia wawe

Ko te rongo pai ko ēnei raruraru kino ka taea te aukati mā te whakahaere tika. Ka pai te mahi o te nuinga o ngā tamariki e ngāwhā ana i te MCAD e whai ana i tō rātou mahere maimoatanga, kāore hoki e nohopuku roa, ā, he whanaketanga noa.

Ka pāngia pea etahi i ngā pānga ngawari e haere tonu ana, penei i te ngāwari ki te ngenge, te iti rānei o te manawanui ki te whakarereke kai. Heoi, mā te tiaki tika me ngā whakarereketanga noho, ka taea e te nuinga o ngā tāngata e ngāwhā ana i te MCAD te whai wāhi ki ngā mahi noa katoa, tae atu ki ngā hākinakina me ētahi atu mahi tinana.

Me pēhea te aukati i te ngāwhā o te MCAD?

Nā te mea he āhuatanga tuku iho tēnei e whānau mai ana koe, kāore e taea te aukati i te āhuatanga anō. Heoi, ka taea te aukati i ngā raruraru nui mā te whakahaere tika me te tiaki.

Ko ngā rautaki aukati tino whai hua e aro ana ki te karo i ngā mea whakaoho e taea ai te puta i ngā mate metabolic. Ko te tikanga tenei te pupuri i ngā kaupapa kai noa, te kore e tuku i ngā wā roa kaore he kai, ina koa i te wā e mate ana, e pēhanga ana rānei.

Mō ngā whānau e whakaaro ana ki te whānau tamariki, ka taea e te tohutohu kiripuaki te āwhina i a koe ki te mārama ki ō tūponotanga mēnā he kaikawe koe o ngā huringa kiripuaki e puta ai te ngāwhā o te MCAD. E wātea ana te whakamātautau i mua i te whānau mēnā e rua ngā mātua e kaikawe ana.

Kei te whakamātautau ngā kaupapa whakamātautau pēpi i ngā whenua maha mō te ngāwhā o te MCAD, e āhei ana ki te kite wawe me te maimoatanga i mua i te puta mai o ngā tōmhā. Kua tino whakapai ake tēnei kitenga wawe i ngā hua mō ngā tamariki e ngāwhā ana i tēnei āhuatanga.

Me pēhea te whakamātautau i te ngāwhā o te MCAD?

Ko te nuinga o ngā take o te ngāwhā o te MCAD ka whakamātautauhia inaianei mā te whakamātautau pēpi noa, e whakamātautau ana i tetahi tauira toto iti i tangohia mai i te rekereke o tō pēpi i roto i ngā rā tuatahi o te ora. Ka taea e tēnei whakamātautau te kite i te āhuatanga i mua i te puta mai o ngā tōmhā.

Mēnā ka whakaatu te whakamātautau pēpi i te ngāwhā o te MCAD, ka tono atu tō taote i ētahi atu whakamātautau hei whakau i te whakamātautau. Ka uru pea ēnei ki te ine i ngā mea motuhake i roto i te toto me te mimi o tō tamaiti e hangaia ana ina kore e mahi tika te enzyme MCAD.

Ka taea hoki e te whakamātautau kiripuaki te whakau i te whakamātautau mā te rapu i ngā huringa i roto i te kiripuaki ACADM. Ka taea e tēnei whakamātautau te tautuhi i ngā huringa kiripuaki motuhake e puta ai te āhuatanga, ā, ka whai hua pea mō te whakarite whānau, te whakau rānei i te whakamātautau i ngā take mārama.

I ētahi wā, ka taea e ngā taote te whakamātautau i te ngāwhā o te MCAD i muri mai i te tamarikitanga mēnā ka puta mai ngā tōmhā i te mate, i muri rānei i te kore kai mō te roa rawa. Ko ngā whakamātautau whakamātautau rite tonu, engari he nui ake te tere o te whakamātautau ina he tōmhā.

He aha te maimoatanga mō te ngāwhā o te MCAD?

Ko te maimoatanga matua mō te ngāwhā o te MCAD e aro ana ki te aukati i tō tinana mai i te hiahia ki te wawahi ngako hei kaha. Ka whakatutukihia tēnei mā te whakahaere kai me te karo i ngā wā roa kaore he kai.

Ka uru pea tō mahere maimoatanga ki:

• Ngā kai me ngā kai reka noa, hei pupuri i te huka toto
• Te karo i te nohopuku mō te 8-12 haora neke atu (iti ake mō ngā pēpi)
• He kai iti te ngako, te nui ake o ngā kāhawai
• Ngā rongoā motuhake, ngā taapiri rānei mēnā ka tūtohutia
• Ngā mahere mahi tūturu mō ngā wā e mate ana

I te wā e mate ana, kāore rānei e taea te kai noa, ka kaha ake te maimoatanga. Ka tūtohu pea tō taote ki te hoatu i ngā inu e wātea ana te huka, i ngā take kino rānei, te noho i te whare hauora mō ngā wai IV e wātea ana te huka.

Ko te nuinga o ngā tāngata e ngāwhā ana i te MCAD e mahi ana me tetahi rōpū e uru atu ana tetahi tohunga metabolic, tetahi kaiwhakahaere kai e mohio ana ki te āhuatanga, me tō rātou taote tamariki noa. Ka āwhina tēnei huarahi rōpū ki te whakarite kia hono ngā āhuatanga katoa o te tiaki, ā, kei a koe te tautoko ina puta mai ngā pātai.

Mā te maimoatanga tika, ka tupu noa te nuinga o ngā tamariki e ngāwhā ana i te MCAD, ka whānau noa hoki, ā, ka taea te whai wāhi ki ngā mahi tamariki noa katoa. Ko te matua ko te pupuri i te kaupapa kai, te whakarite hoki mō ngā wā e mate ana, e pēhanga ana rānei.

Me pēhea te whakahaere i te ngāwhā o te MCAD i te kāinga?

Ko te whakahaere i te ngāwhā o te MCAD i te kāinga e aro ana ki te pupuri i ngā tauira kai noa, te whakarite hoki mō ngā āhuatanga e taea ai te whakaoho i ngā tōmhā. Ko te whāinga ko te pupuri i te huka toto o tō tamaiti, te karo hoki i te hiahia o tō tinana ki te wawahi ngako hei kaha.

Me uru atu ki tō mahi o ia rā te tuku kai me ngā kai reka i ngā haora 3-4 i te rā, te kore e tuku i tō tamaiti kia neke atu i te 8-12 haora kaore he kai (ngā wā poto ake mō ngā pēpi me ngā tamariki iti). Pupurihia ngā kai reka ngāwari ki te kai, te nui o ngā kāhawai.

Ina mate ana tō tamaiti, he mea nui rawa atu te tirotiro i tōna kai me tōna inu. Tukuhia ngā inu iti, ngā inu e wātea ana te huka, penei i ngā inu hākinakina, i ngā wai mārama rānei, mēnā kāore e taea te pupuri kai. Whakapiri atu ki tō rōpū hauora i te timatanga o tetahi mate mō te aratohu.

Pupurihia tonu ngā taputapu tūturu, tae atu ki ngā keke huka, ngā inu hākinakina, i ētahi atu puna tere o te huka. Whakaatuhia ki ngā kaiwhakahaere, ngā kaiako, me ngā whānau te āhuatanga, te mohio hoki ki te mahi mēnā ka kore tō tamaiti e pai.

Whakaarohia te whiwhi i te poroporo whakamārama hauora mō tō tamaiti e tautuhi ana i tōna āhuatanga. Ka taea tēnei te korero nui mō ngā kaiwhakautu tūturu mēnā ka hiahia tō tamaiti ki te tiaki hauora tūturu.

Me pēhea te whakarite mō tō hui taote?

I mua i tō hui, tuhia ētahi tōmhā, āhuatanga rānei kua kitea e koe, ahakoa he iti rawa. Whakauruhia ngā kōrero mō te wā i puta mai ai ngā tōmhā, me te mahi rānei, te kai rānei o tō tamaiti i taua wā.

Mauria he rārangi kai taipitopito e whakaatu ana i ngā tauira kai o tō tamaiti i te wiki kua pahure. Ka āwhina tēnei i tō taote ki te mārama ki te pai o te mahere whakahaere o nāianei, me te hiahia rānei ki te whakarereke.

Whakaritea he rārangi o ngā pātai e hiahia ana koe ki te ui. Ka uru pea ēnei ki ngā āhuatanga mō te tipu me te whanaketanga, ngā pātai mō te whakahaere i te āhuatanga i te wā e haere ana, te whakaaro rānei mō ngā mahi ka taea e tō tamaiti te whai wāhi haumaru.

Mēnā kua mate tō tamaiti i te wā tata nei, kua whānau rānei i ētahi wāhanga āwangawanga, tuhia ngā kōrero, tae atu ki te mea i puta, te roa o tōna roa, me te mea i mahi koe hei āwhina. Ka āwhina ēnei kōrero i tō taote ki te aromatawai mēnā kei te pai te mahi o tō mahere tūturu.

Whakaatuhia ngā rongoā me ngā taapiri katoa e tangohia ana e tō tamaiti, me ngā hua whakamātautau hou rānei, ngā rēkōta mai i ētahi atu kaiwhakarato hauora. Ka āwhina te whai i ngā kōrero katoa i tō taote ki te whakarato i te tiaki pai rawa atu.

He aha te mea nui mō te ngāwhā o te MCAD?

Ko te ngāwhā o te MCAD he āhuatanga tuku iho e taea te whakahaere e pā ana ki te whakamahinga o tō tinana i te ngako hei kaha. Ahakoa e hiahia ana ki te aro me te tiaki tonu, ka taea e te nuinga o ngā tamariki e ngāwhā ana i tēnei āhuatanga te ora i te ora noa, hauora mā te whakahaere tika.

Ko te mea nui rawa atu hei mahara ko te aukati i ngā raruraru he tino whai hua. Mā te pupuri i ngā kaupapa kai noa, te karo i te nohopuku roa, me te whai i tetahi mahere pai mō te whakahaere i te mate, ka taea te karo i ngā raruraru nui.

Kua tino whakapai ake te whakamātautau wawe mā te whakamātautau pēpi i ngā hua mō ngā tamariki e ngāwhā ana i te ngāwhā o te MCAD. Mēnā kua whakamātautauhia tō tamaiti, ko te mahi ngātahi me tō rōpū hauora me te whai i te mahere whakahaere ka hoatu ki tō tamaiti te tupono pai rawa atu mō te tipu noa, te whanaketanga, me te whai wāhi ki ngā mahi tamariki katoa.

Mahara kaore te ngāwhā o te MCAD e tautuhi i te heke mai o tō tamaiti. Mā te mātauranga, te whakarite, me te tiaki hauora pai, ka pai te mahi o ngā tamariki e ngāwhā ana i tēnei āhuatanga, rite tonu ki ō rātou hoa i te kura, i ngā hākinakina, me ētahi atu āhuatanga o te ora.

Ngā pātai e ui pinepinetia ana mō te ngāwhā o te MCAD

Ka taea e ngā tamariki e ngāwhā ana i te MCAD te takaro hākinakina me te mahi tinana?

Ae, ka taea e ngā tamariki e ngāwhā ana i te MCAD te whai wāhi ki ngā hākinakina me ngā mahi tinana, rite tonu ki ētahi atu tamariki. Ko te matua ko te whakarite kia kai tika rātou i mua i ngā mahi roa, i te wā hoki, kia inu wai pai. Ka hiahia pea koe ki te tuku atu i ngā kai reka atu i ngā wā roa o ngā mahi, me mōhio hoki ngā kaiwhakahaere ki te āhuatanga o tō tamaiti me te mahere tūturu.

Ka tupu ake rānei tō tamaiti i te ngāwhā o te MCAD?

Kāo, he āhuatanga tuku iho ora tonu te ngāwhā o te MCAD e kore e ngaro. Heoi, i te wā e pakeke ana ngā tamariki, ka tino pai ake te whakahaere i tō rātou āhuatanga, ka iti ake pea ngā wāhanga āwangawanga. Ka hiahia pea ngā pakeke e ngāwhā ana i te MCAD ki te tirotiro iti ake i ngā tamariki iti, engari me karo tonu te nohopuku roa, te pupuri hoki i ngā tikanga kai pai.

Me pēhea taku mahi mēnā ka ruaki taku tamaiti, kāore hoki e taea te pupuri kai?

Mēnā kei te ruaki tō tamaiti, kāore hoki e taea te pupuri kai, he āhuatanga kino pea tēnei e hiahia ana ki te aro wawe. Whakamātauria te tuku inu iti, ngā inu e wātea ana te huka, penei i ngā inu hākinakina, i ngā wai mārama rānei. Whakapiri atu ki tō rōpū hauora tonu mō te aratohu, kaua hoki e whakaroa ki te haere ki te rūma tūturu mēnā ka moe nui tō tamaiti, ka haere tonu te ruaki, ka whakaatu rānei i ētahi atu tōmhā āwangawanga.

Me pēhea te pā o te ngāwhā o te MCAD ki te tipu me te whanaketanga o taku tamaiti?

Mā te whakahaere tika, kāore pea te ngāwhā o te MCAD e pā ki te tipu me te whanaketanga noa. Ka taea e ngā tamariki e whai ana i tō rātou mahere maimoatanga, kāore hoki e whānau i ngā mate metabolic te tae ki ō rātou tohu whanaketanga i te wā, te tipu hoki i ngā reiti noa. Ka tirotirohia e ngā tirotiro noa me tō rōpū hauora te ahunga whakamua o tō tamaiti, te whakarite hoki kia pai ngā mea katoa.

Ka taea te whakamātautau i ngā mātua e rua kia kite mēnā he kaikawe rātou?

Ae, e wātea ana te whakamātautau kiripuaki hei tautuhi mēnā he kaikawe ngā mātua o ngā huringa kiripuaki e puta ai te ngāwhā o te MCAD. E tūtohu ana tēnei whakamātautau, ina koa mēnā he hītori whānau o te āhuatanga, mēnā rānei kei te whakaaro koe ki te whānau tamariki, e hiahia ana hoki ki te mārama ki ō tūponotanga. Ka taea e tetahi tohunga kiripuaki te āwhina ki te whakamārama i te tukanga whakamātautau me te tikanga o ngā hua mō tō whānau.