Maʻi maʻi mimi syrup

ʻO ka maʻi mimi syrup maple (MSUD) kahi maʻi i hiki ʻole i ke kino ke haki i kekahi mau ʻāpana o nā protein. Hiki i ka mimi o nā poʻe me kēia ʻano ke pilau e like me ka syrup maple.

Hoʻoilina ʻia ka maʻi mimi syrup maple (MSUD), ʻo ia hoʻi ua hoʻoili ʻia i waena o nā ʻohana. Hoʻokumu ʻia ia e kahi kīnā ma 1 o 3 mau genes. ʻAʻole hiki i nā kānaka me kēia ʻano ke wāwahi i nā amino acid leucine, isoleucine, a me ka valine. ʻO kēia ke alakaʻi i kahi kūkulu ʻana o kēia mau kemika i ke koko.

I ke ʻano koʻikoʻi loa, hiki i ka MSUD ke hōʻino i ka lolo i nā manawa o ke koʻikoʻi koʻikoʻi (e like me ka maʻi, ke kuni, a me ka ʻai ʻole no ka manawa lōʻihi).

Akahai kekahi mau ʻano MSUD a i ʻole hele mai a hoʻi. ʻOiai ma ke ʻano akahai, hiki i nā wā pinepine o ke koʻikoʻi koʻikoʻi ke kumu i ke kīnā o ka noʻonoʻo a me nā kiʻekiʻe o nā leucine e kūkulu.

ʻO nā ʻōuli o kēia maʻi me:

• Koma
• Pilikia hānai
• Lethargy
• Ka hopu ʻana i nā maʻi
• ʻO ka mimi e ʻaala e like me ka syrup maple
• ʻO ka luaʻi

Hana ʻia paha kēia mau hoʻokolohua e nānā ai no kēia maʻi:

• ʻO ka hoʻāʻo ʻana o ka amino acid Plasma
• ʻO ka hoʻāʻo acid urine organic acid
• Ke hoʻāʻo genetic

E loaʻa nā hōʻailona o ketosis (buildup o ketones, kahi huahana o ka momona momona) a me ka nui o ka waikawa i ke koko (acidosis).

Ke kuhi ʻia ke ʻano, a i ka wā o ka episodes, pili ka mālama ʻana i ka ʻai ʻana i kahi papaʻai protein ʻole. Hāʻawi ʻia nā wai, nā kō, a i kekahi manawa hāʻawi ʻia nā momona ma o ka aa (IV). Hiki ke hana i ka dialysis ma loko o kou ʻōpū a i ʻole kahi aa koko e hōʻemi ai i ka pae o nā mea maʻamau i loko o kou koko.

Pono ka mālama wā lōʻihi i kahi papaʻai kūikawā. No nā pēpē, hoʻokomo ka papaʻai i kahi papa me nā haʻahaʻa haʻahaʻa o nā amino acid leucine, isoleucine, a me valine. Pono ka poʻe me kēia ʻano e hoʻomau i ka papaʻai papaʻai i kēia mau amino acid no ke ola.

He mea nui e ukali mau i kēia papaʻai e pale ai i ka ʻōnaehana nerve (neurological). Pono kēia i nā hoʻokolohua koko pinepine a me ka nānā pono ʻana e kahi dietitian a me ke kauka i hoʻopaʻa inoa ʻia, a me ke alu like ʻana e nā mākua o nā keiki me ke ʻano.

Hiki i kēia maʻi ke hoʻoweliweli i ke ola inā mālama ʻole ʻia.

ʻOiai me ka mālama ʻana i ka papaʻai, nā pilikia a me nā maʻi hiki ke hana i nā pae kiʻekiʻe o kekahi mau amino acid. Hiki ke make i kēia mau kaʻina. Me ka mālama pono ʻana i ka papaʻai, ua ulu a makua nā keiki a hiki ke hoʻomau i ke olakino.

Hiki ke hana i kēia mau pilikia:

• Poino Neurological
• Koma
• Make
• Ka manaʻo kīnā ʻole

Kāhea i kāu mea mālama ola inā loaʻa iā ʻoe ka moʻolelo ʻohana o MSUD a ke hoʻolālā nei e hoʻomaka i kahi ʻohana. E kāhea koke aku hoʻi i kāu mea hāʻawi inā he keiki hānau kāu i loaʻa nā ʻōuli o ka maʻi mimi syrup maple.

ʻ suggestedlelo ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe makemake e loaʻa nā keiki a he moʻolelo ʻohana ko ka maple syrup urine maʻi. Nui nā mokuʻāina i kēia manawa e nānā i nā keiki hānau hou me nā hōʻoia koko no MSUD.

Inā hōʻike kahi hōʻike loiloi e loaʻa paha i kāu pēpē ka MSUD, pono e hana koke i kahi hōʻoia koko no nā pae amino acid e hōʻoia i ka maʻi.

MSUD

ʻO Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias a me nā acidemias meaola. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology: Nā Kumuhana a me nā Hana. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2017: chap 37.

ʻO Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā o ka metabolism o nā amino acid. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 103.

Merritt JL, Gallagher RC. Nā hewa i loko o ka hakepona, ka amonia, ka amino acid, a me ka metabolism acid kemika. I: Gleason CA, Juul SE, eds. Nā maʻi o Avery o ke keiki hānau. 10 o ka lā. Piladelapia, PA: Elsevier; 2018: chap 22.