He ʻala ʻono anei ka mimi o kāu pēpē? E aʻo kākou e pili ana i kēia maʻi laha ʻole (Maple Syrup Urine Disease)

E noʻonoʻo i ka wā e hoʻololi ai ʻoe i ka diaper o kāu pēpē liʻiliʻi, a i ʻole ʻoe e paʻa ana i kāu pēpē, ʻike ʻoe i kahi ʻala ʻē a ʻono. E like me ka syrup maple, a i ʻole kahi ʻala kō . ʻOiai inā ʻaʻole ʻoe e hoʻolohe iā ia i ka wā mua, inā e hoʻomau kēia ʻala, he mea maʻamau no kekahi makuahine a makuakāne paha ke makaʻu iki. ʻO ka ʻoiaʻiʻo, ʻo kēia ka hōʻailona nui a maopopo loa o ka maʻi kakaʻikahi akā he mea nui loa e ʻike i ka wā mua i kapa ʻia ʻo 'Maple Syrup Urine Disease' (MSUD).

I ka ʻōlelo maʻalahi, he maʻi metabolic kēia. ʻO ia hoʻi, aia kahi kīnā i ke kaʻina hana paʻakikī e hoʻololi ai i ka meaʻai a mākou e ʻai ai i ikehu. Ua ʻike mākou a pau i ke koʻikoʻi o ka protein no ko mākou kino. Hana ʻia kēia mau protein me nā poloka hale liʻiliʻi i kapa ʻia ʻo amino acids. I loko o ke kanaka me MSUD, ʻaʻole hiki i ke kino ke wāwahi pono i ʻekolu ʻano amino acids, ʻo ia hoʻi ka leucine, isoleucine, a me ka valine , a hoʻololi iā lākou i ikehu. ʻO kēia no ka mea ʻaʻole i hana ʻia nā enzymes e pono ai no kēia kaʻina hana i loko o ko lākou kino. No laila he aha ka mea e hana ai? Hoʻomaka kēia mau amino acids hiki ʻole ke wāwahi ʻia a me kā lākou mau huahana e hōʻiliʻili i loko o ke kino a me ke koko ma ke ʻano he toxins . Hiki i kēia mau toxins ke hōʻino i ka lolo a me nā ʻōpū ʻē aʻe. Inā ʻaʻole mālama ʻia, hiki i kēia kūlana ke alakaʻi i ka make. No laila, he mea nui loa ka makaʻala i kēia.

No ke aha e kū mai ai kēlā maʻi laha ʻole?

He maʻi laha ʻole ka maʻi mimi syrup maple. Ma ka honua holoʻokoʻa, ma kahi o hoʻokahi i loko o 185,000 mau keiki i hānau ʻia me kēia maʻi.

Hoʻokumu ʻia kēia e kekahi mau mutations i loko o kā mākou mau genes. Pale kēia mau loli genetic i ke kino mai ka hana ʻana i nā enzymes e pono ai e wāwahi i nā waikawa amino ʻekolu a mākou i kamaʻilio ai ma mua. He maʻi genetic recessive kēia. ʻO ke ʻano kēia, no ka loaʻa ʻana o kēia maʻi i kahi pēpē, pono i ka makuahine a me ka makuakāne ke hoʻoilina i ka gene hemahema.

E noʻonoʻo ʻoe a me kāu hoa he mau 'mea lawe' o kēia gene hewa. ʻO ia hoʻi, ʻaʻohe ou hōʻailona, ​​akā aia ka gene hewa i loko o kou kino. Inā pēlā:

• Aia he 25% ka manawa e hānau ʻia ai kāu pēpē me MSUD.
• Aia he 50% ka manawa e lilo ai kāu pēpē i 'mea lawe', e like me ʻoe, ka mea ʻaʻohe ona hōʻailona akā e lawe nō i ke gene.
• Aia he 25% ka manawa kūpono ʻaʻole loa e hoʻoilina ka pēpē i kēia gene kīnā a e olakino maikaʻi ʻo ia.

Aia kekahi mau ʻano like ʻole o kēia maʻi?

ʻAe, ʻehā mau ʻano nui o MSUD, kahi ʻokoʻa ke koʻikoʻi a me ka manawa e pono ai no ka ʻike ʻia ʻana o nā hōʻailona.

He aha nā hōʻailona ma waho aʻe o ke ʻala o ka syrup maple?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ka hōʻailona maopopo loa he ʻala e like me ka syrup maple a i ʻole ke kō ʻeleʻele. Hiki ke hele mai kēia ʻala mai ka mimi , ka hou , a me ka wax pepeiao .

Akā, he nui nā hōʻailona ʻē aʻe ma waho aʻe o kēia ʻala. ʻOkoʻa kēia ma muli o ke ʻano o ka maʻi a me ke kanaka.

Nā hōʻailona i nā pēpē hānau hou (Classic MSUD)

Inā ʻaʻole mālama ʻia, hiki i kēia mau pēpē ke hōʻike i nā hōʻailona e like me:

• Hoʻomaha mau, huhū
• Ka paʻakikī a i ʻole ka hōʻole ʻana e inu i ka waiū
• Ke hiamoe maʻamau ʻole nei a i ʻole ke kaumaha mau nei
• Nā pilikia hanu
• ʻO nā ʻūmiʻi ʻiʻo a i ʻole ke kūlou ʻana o ke kino
• Koma

Nā hōʻailona i nā keiki makua a me nā pākeke

I nā ʻano waena, sporadic, a me nā ʻano pane thiamine, hiki ke ʻike ʻia nā hōʻailona i kēlā me kēia makahiki. Hiki ke ʻike ʻia a ʻoi aku paha ka ʻino i ka wā o ke kuni, ka maʻi, a i ʻole ke kaumaha.

• ʻEha ʻōpū a me ka luaʻi
• Ka nalowale o ka makemake a me ka pohō kaumaha
• Ka nāwaliwali o nā ʻiʻo a i ʻole ka nalowale o ka mana i ka wā e hele ana
• Nā neʻe ʻana me ka makemake ʻole
• ʻŌlelo ʻino
• Ka nalowale o ka ʻike a i ʻole ka paʻakikī e ala

Pehea e ʻike ai i ka maʻi?

Ma nā ʻāina he nui i hoʻomohala ʻia, ʻo ka nānā ʻana i nā keiki hānau hou e komo pū ana me ka hoʻāʻo ʻana no MSUD. No laila, hiki ke ʻike ʻia ke ʻano maʻamau i loko o kekahi mau lā o ka hānau ʻana. Ma Sri Lanka, hoʻāʻo ʻia nā keiki hānau hou no nā maʻi like ʻole. ʻOiai he mea kakaikahi loa kēia maʻi, ʻaʻole hiki ke hoʻāʻo ʻia nā pēpē āpau no kēia maʻi.

Eia nō naʻe, hiki i ke kauka ke kānalua i ke kūlana inā ʻike lākou i nā hōʻailona o ka pēpē, ʻoiai ke ʻala ʻokoʻa. A laila, hana ʻia nā hoʻāʻo koko a me ka mimi kūikawā e hōʻoia i ka hōʻailona. Hiki i kēia mau hoʻāʻo ke nānā i nā pae kiʻekiʻe o nā waikawa amino pilikia i loko o ke koko a me ka mimi. I kekahi mau hihia, hoʻohana ʻia ka hoʻāʻo genetic e hōʻoia i ke kūlana.

He aha nā lāʻau lapaʻau? Hiki ke ho'ōla loa ʻia?

ʻO ka pahuhopu nui o ka mālama ʻana i kēia maʻi, ʻo ia ke kāohi ʻana i nā pae o nā waikawa amino ʻino e hōʻiliʻili ana i loko o ke kino.

ʻO ka lāʻau lapaʻau nui he papaʻai kūikawā e pono e mālama ʻia i ke ola a pau.ʻO kēia ka hoʻemi ʻana i nā meaʻai protein (e laʻa, ka ʻiʻo, ka iʻa, nā hua manu, nā huahana waiū, a me kekahi mau palaoa) i kiʻekiʻe i nā waikawa amino pilikia (leucine, isoleucine, a me valine). I ka manawa like, ua hoʻolako ʻia nā meaola ʻē aʻe e pono ai no ka ulu ʻana, e like me nā pauka waiū i hana kūikawā ʻia a me nā mea hoʻohui. Hoʻokō ʻia kēia hoʻolālā ʻai ma lalo o ka nānā pono ʻana o ke kauka a me ka meaʻai meaʻai .

I nā hihia kahi i koʻikoʻi ai nā hōʻailona, ​​​​pono ka hoʻokipa ʻana i ka haukapila a hoʻohana ʻia nā lāʻau lapaʻau ʻē aʻe.

• E hoʻolako i ke kino i ka meaʻai e pono ai ma ka hāʻawi ʻana i ka meaʻai ma o kahi aʻa koko (IVs) a i ʻole nā ​​ʻōmole kūikawā.
• E kāohi i nā pae amino acid koko ma o ka lawelawe ʻana i ka glucose a i ʻole ka insulin ma o IV.
• No ka wehe koke ʻana i nā mea ʻawahia i hōʻiliʻili ʻia i loko o ke koko, e hoʻokomo i ke koko i ka kānana (kahi ʻano e like me ka dialysis).

Maʻi Mimi Syrup Maple, MSUD, Nā Maʻi Genetic, Nā Maʻi Pediatric, Nā Maʻi Metabolic, Nā Waikawa Amino, ʻAla Mimi Pēpē