Ua luhi mau anei kāu pēpē? Loaʻa iā ia ka makemake ʻole e ʻai? E aʻo kākou e pili ana i kēia hemahema MCAD?

Ke luhi mau nei kāu keiki liʻiliʻi a hiamoe? Ke lilo nei paha ia i mea paʻakikī loa inā loaʻa iā ia ke anu a i ʻole e hala ana i kahi ʻai? Ke luaʻi nei ʻo ia a nalowale paha kona ikaika i ia mau manawa? Malia paha he maʻi ma hope o kēia mau mea a mākou e kamaʻilio nui ʻole ai, akā he mea nui loa ia e ʻike. ʻO ia kekahi o ia ʻano maʻi i kapa ʻia ʻo ka hemahema o MCAD. I kēia lā, e kamaʻilio mākou e pili ana i kēia me ka maʻalahi loa, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

I ka ʻōlelo maʻalahi, he aha ka hemahema o ka MCAD?

E noʻonoʻo i ko kākou kino e like me ke kaʻa. Pono ke kaʻa i ka wahie e holo ai. Ma ke ʻano like, pono ko kākou kino i ka ikehu e hana i kāna hana. Loaʻa iā kākou kēia ikehu mai ka meaʻai a kākou e ʻai ai. ʻO kā kākou mau kumu ikehu nui he mau kalapona (starches) a me nā momona.

ʻO ka maʻamau, hoʻohana mua ko mākou kino i nā kalapona no ka ikehu. Akā ke hala mākou i nā hola me ka ʻai ʻole, a i ʻole i ka wā hiki ʻole iā mākou ke ʻai ma muli o ka maʻi e like me ke kuni a i ʻole ka luaʻi ʻana, hoʻomaka ko mākou kino e hoʻohana i ka momona ma ke ʻano he kumu lua o ka ikehu.

Aia kekahi enzyme kūikawā i loko o ko kākou kino e hoʻololi i kēia momona i ikehu. Ua kapa ʻia ʻo ia ʻo Medium-chain acyl-coenzyme A dehydrogenase . Kōkua kēia enzyme i ka wāwahi ʻana i nā waikawa momona medium-chain i loaʻa i ka meaʻai a kākou e ʻai ai a i loko o ko kākou kino a hana i ka ikehu.

I loko o ke keiki me ka hemahema o ka MCAD , ʻaʻole lawa ka hana a ke kino i ka enzyme kūikawā aʻu i ʻōlelo ai. ʻO ia hoʻi, aia kahi hemahema i loko. No laila, ʻo ka mea e hana ʻia, inā ʻaʻole ʻai kēia keiki no ka manawa lōʻihi, ʻaʻole hiki i kona kino ke hoʻohana i ka momona e hana i ka ikehu. Ma muli o kēia, emi koke ka ikehu o ke kino, a loaʻa ke keiki iā ia iho i kahi kūlana paʻakikī.

Pehea e hiki mai ai kēia maʻi? He mea hoʻoilina anei ia?

ʻAe, he maʻi hoʻoilina piha kēia. ʻO ia hoʻi, ua hoʻoilina ʻia mai ka makuahine a i ʻole ka makuakāne. ʻO ke kumu o kēia he mutation i loko o ka gene i kapa ʻia ʻo 'ACADM'.

Ua hoʻoilina ʻia kēia ma ke ʻano 'autosomal recessive' . E wehewehe maʻalahi wau i ke ʻano o ia mea.

E noʻonoʻo he kope olakino ko nā mākua ʻelua o ka gene `ACADM`, a he loli iki ko kekahi kope (mutation). Akā no ka mea he kope olakino ko lākou, ʻaʻole hōʻike kekahi makua i kekahi mau hōʻailona. Ua kapa ʻia lākou he ``mea lawe.''

Ke loaʻa i kekahi mau mākua lawe keiki e like me kēia ke keiki,

• Aia he 25% ka manawa e loaʻa ai i kahi keiki kēia maʻi (inā loaʻa iā lākou ka gene mutated mai ko lākou makuahine a me ko lākou makuakāne).
• Aia he 50% ka manawa e lilo ai ke keiki i mea lawe i nā maʻi ʻaʻohe hōʻailona, ​​e like me nā mākua.
• Aia he 25% ka manawa kūpono ʻaʻole e hoʻoilina ke keiki i kēia gene mutated a e lilo ia i keiki olakino piha.

He aha nā hōʻailona o ka hemahema o ka MCAD?

ʻIke pinepine ʻia kēia mau hōʻailona i ka wā kamaliʻi a i ʻole ka wā kamaliʻi, ʻoiai ke maʻi ke keiki i ke kuni a i ʻole ka luaʻi ʻana a ʻaʻole hiki ke ʻai, a i ʻole i ka wā e hoʻonui ʻia ai ka manawa ma waena o nā meaʻai.

E hoʻokaʻawale kākou i kēia mau hōʻailona i ʻelua ʻano.

Pehea e ʻike ai nā kauka i kēia maʻi?

ʻO ka mea maikaʻi loa ma ʻaneʻi, i kēia mau lā, i ka wā e hānau ai ke keiki , hānau ʻia mai kahi pēpē hānau hou.ʻO ka nānā ʻana i nā keiki hānau hou e hiki ai ke ʻike mua i nā maʻi he nui, e like me ka hemahema o MCAD. Hana ʻia kēia hoʻāʻo me ka hoʻohana ʻana i kekahi mau kulu koko i lawe ʻia mai ke kuʻekuʻe wāwae o ka pēpē i kekahi mau lā ma hope o ka hānau ʻana.

ʻO ke ʻano kēia, hiki ke ʻike ʻia ke keiki me kēia maʻi ma mua o ko lākou hōʻike ʻana i kekahi mau hōʻailona. He mea kēia e hiki ke hoʻopakele i ko lākou ola.

Inā hāpai ka nānā ʻana i nā keiki hānau hou i ka kānalua e pili ana i kēia kūlana, e kauoha ke kauka i nā hoʻokolohua hou aʻe e hōʻoia i ia mea.

• Hoʻāʻo ʻana i ka genetics
• Nā hoʻāʻo koko a me ka mimi

Ma hope o ka hōʻoia ʻana i ka maʻi, e hāʻawi ke kauka i ke keiki i ka lāʻau lapaʻau a me nā ʻōlelo aʻoaʻo e pono ai.

He aha nā lāʻau lapaʻau no kēia? Pehea e mālama ai i ke keiki?

ʻO ka mālama ʻana i ka hemahema o ka MCAD e pili ana i ka mālama ʻana i ka ʻai a ke keiki . ʻO ka mea nui ma ʻaneʻi, ʻo ia ka mālama ʻana i nā pae ikehu o ke keiki. ʻO ia hoʻi, ʻaʻole pono ke keiki e hele no ka manawa lōʻihi me ka ʻai ʻole .

Eia kekahi mau kumu nui e noʻonoʻo ai i ka wā o ka mālama ʻana a me ka hoʻokele ʻana.

• E hāʻawi i nā meaʻai pinepine: Mai hoʻokuʻu i kāu keiki e pōloli no nā hola. Ma waho aʻe o nā meaʻai nui, pono ʻoe e hāʻawi i nā meaʻai māmā. ʻAʻole maikaʻi ke hele me ka ʻai ʻole no ka manawa lōʻihi, ʻoiai i ka pō. I ka wā ʻōpiopio o kāu keiki, pono paha ʻoe e hoʻāla iā ia i ka pō e hāʻawi iā ia i ka waiū a me ka meaʻai.
• Nā meaʻai waiwai i nā kalapona: E hoʻokomo i nā meaʻai starchy e like me ka laiki, ka berena, ka ʻuala, ka ʻuala, a me nā palaoa i ka papaʻai a kāu keiki. Hāʻawi kēia i ke kino i ka ikehu e pono ai me ka maʻalahi.
• E kaupalena i nā meaʻai momona kiʻekiʻe: ʻAʻole kēia manaʻo e hōʻoki loa i ka momona, akā he manaʻo maikaʻi e kaupalena i nā mea e like me ka momona kiʻekiʻe, nā meaʻai palai.
• Nā mea hoʻohui Carnitine: Hiki ke hāʻawi ʻia kekahi mau keiki i kahi mea hoʻohui i kapa ʻia ʻo "Carnitine" e kā lākou kauka. Kōkua kēia i ke kino e hoʻololi i ka momona i ikehu.

He aha kāu e hana ai ke maʻi ʻoe?

ʻO kēia ka mea nui loa. Inā loaʻa i kahi keiki me ka hemahema o ka MCAD kahi maʻi e like me ke kuni, ka luaʻi ʻana, a i ʻole ka maʻi pākī, he mea weliweli loa ia. No ka mea, i kēlā manawa, ʻaʻole e ʻai ke keiki, a e emi koke ka ikehu o ke kino.

I kekahi manawa, inā pono ke keiki e hana i ke ʻoki kino, pono lākou e hoʻokē ʻai ma mua o ke kaʻina hana. I kēlā mau hihia, e hoʻokomo ke kauka i ke keiki i ka haukapila a hāʻawi iā lākou i ka glucose saline (nā wai IV) e hoʻomau i ka hydrated.

Āhea wau e ʻike ai i ke kauka? Āhea wau e hele ai i ka ETU?

Inā ua ʻike ʻia kāu keiki me ka hemahema o MCAD, e ʻike koke i kāu kauka ma nā kūlana aʻe:

• Inā ʻaʻole ʻai maʻamau ke keiki a ke kāpae nei paha i ka ʻai ʻana.
• Inā loaʻa ke kuni i ke keiki, hoʻomau i ka hiamoe nui, a i ʻole ke ʻano palaualelo.
• Inā hoʻomau ke keiki i ka luaʻi.

I ka manawa hea e hele koke ai i ka Emergency Treatment Unit (ETU):

• Inā loaʻa i kāu keiki kahi maʻi hopu, e lawe iā lākou i ka lumi pilikia haukapila kokoke loa (ETU) me ka ʻole o ka hoʻopaneʻe hou aku. ʻO ka hopu ʻana kekahi o nā pilikia koʻikoʻi loa o kēia maʻi.

Hiki i ke keiki me kēia maʻi ke ola i kahi ola maʻamau?

ʻAe loa! ʻO ia ka mea nui a ʻoluʻolu hoʻi ma ʻaneʻi. Inā ʻike mua ʻia kēia maʻi ma o ka Newborn Screening i ka wā hānau a mālama pono ʻia ka ʻai e like me ke kuhikuhi a ke kauka, hiki i ka hapa nui o nā keiki ke ola i kahi ola olakino a maʻamau me ka ʻole o nā pilikia.

Eia nō naʻe, inā ʻaʻole i ʻike ʻia kēia maʻi, ʻo ia hoʻi, inā ʻaʻole i mālama ʻia i ka wā e ʻike ʻia ai nā hōʻailona, ​​​​ma waena o 20%-25% o nā keiki hiki ke loaʻa i nā kīnā lōʻihi a i ʻole ka make. ʻO ia ke kumu he mea nui ka nānā ʻana i nā keiki hānau hou a me ka ʻike mua ʻana i ka maʻi.