Galactosemia

ʻO Galactosemia kahi kūlana i hiki ʻole i ke kino ke hoʻohana (metabolize) i ka galactose kō kō maʻalahi.

ʻO Galactosemia kahi maʻi hoʻoilina. ʻO kēia ke kumu i hoʻoili ʻia i waena o nā ʻohana. Inā halihali nā mākua ʻelua i kahi kope nonworking o ka ʻāpana i hiki ke kumu i ka galactosemia, he 25% (1 i ka 4) o kā lākou keiki e pili pū ana me ia.

Aia he 3 ʻano o ka maʻi.

• ʻO Galactose-1 phosphate uridyl transferase (GALT) hemahema: ʻO ka galactosemia maʻamau, ke ʻano maʻamau a ʻoi loa hoʻi.
• Ka nele o ka galactose kinase (GALK)
• Ka lawa ʻole o galactose-6-phosphate epimerase (GALE)

ʻAʻole hiki i ka poʻe me ka galactosemia ke haki piha i ka galactose kō māmā. Hana ʻo Galactose i hoʻokahi hapalua o ka lactose, ke kō i loaʻa i ka waiū.

Inā hāʻawi ʻia kahi pēpē me ka galactosemia i ka waiū, kūkulu ʻia nā mea mai ka galactose i ka ʻōnaehana o ke pēpē. Hoʻopōʻino kēia mau mea i ke ake, ka lolo, nā puʻupaʻa, a me nā maka.

ʻAʻole hiki i ka poʻe me ka galactosemia ke hoʻomanawanui i kekahi ʻano o ka waiū (kanaka a holoholona paha). Pono lākou e akahele e pili ana i ka ʻai ʻana i nā meaʻai ʻē aʻe i loaʻa nā galactose.

Hiki i nā pēpē me nā galactosemia ke hōʻike i nā hōʻailona i nā lā mua o ke ola inā ʻai lākou i ka haʻilula a i ʻole ka waiū umauma i loaʻa ka lactose. ʻO nā ʻōuli ma muli o ke kūpikipiki ʻana o ke koko me nā bacteria E coli.

ʻO nā ʻōuli o ka galactosemia:

• Nā manaʻo hoʻohoka
• Huhū
• Lethargy
• Hānai hānai maikaʻi ʻole - hōʻole ka pēpē e ʻai i ka hana i loko o ka waiū
• Loaʻa maikaʻi kaupaona
• ʻIli melemele a keʻokeʻo o nā maka (jaundice)
• ʻO ka luaʻi

Nā ho'āʻo e nānā no ka galactosemia e komo pū ana:

• ʻO ka moʻomeheu koko no ka maʻi bacteria (E coli sepsis)
• ʻO ka hana enzyme i nā hunaola ʻulaʻula
• Ketone i ka mimi
• Kuhi prenatal e ke ana pololei ʻana i ka enzyme galactose-1-phosphate uridyl transferase
• "Hoʻoemi i nā mea" i ka mimi o ke pēpē, a me ke kō kō a maʻamau a haʻahaʻa paha ʻoiai e hānai ʻia ana ka pēpē i ka waiū umauma a i ʻole kahi haʻuna i loaʻa ka lactose

ʻO nā hoʻāʻo loiloi hou hānau ʻia ma nā mokuʻāina he nui no ka galactosemia.

Hōʻike paha nā hopena hōʻike:

• ʻO nā amino acid i ka mimi a i ʻole ka plasma koko
• Ake akea
• Loli i loko o ka ʻōpū
• Koko kōpaʻa haʻahaʻa

Pono nā kānaka me kēia ʻano e hōʻalo i nā waiū a pau, nā huahana i loaʻa ka waiū (me ka waiū maloo), a me nā meaʻai ʻē aʻe i loaʻa nā galactose, no ke ola. Heluhelu i nā lepili huahana e ʻike pono ʻaʻole ʻoe a kāu keiki paha me ke ʻano e ʻai i nā meaʻai i loaʻa ka galactose.

Hiki ke hānai ʻia i nā pēpē:

• Hoʻomākaukau Soy
• ʻO kekahi kumuhana lactose-free
• ʻO ka hoʻopili ʻana i kaʻiʻo a i ʻole Nutramigen (kahi hana hydrolyzate protein)

Paipai ʻia nā mea hoʻopiha kalipuna.

ʻO Galactosemia Foundation - www.galactosemia.org

ʻO ka poʻe i ʻike mua ʻia a pale pono i nā huahana waiū hiki ke ola i kahi ola maʻamau. Eia nō naʻe, hiki ke ulu i ka hōʻino noʻonoʻo liʻiliʻi, ʻoiai i ka poʻe i pale i ka galactose.

Hiki i kēia mau pilikia ke ulu:

• Kālepaʻa
• Cirrhosis o ke ake
• Hoʻolālā haʻi ʻōlelo lohi
• Nā wā menstrual maʻamau, hoʻemi i ka hana o nā ovaries e alakaʻi ana i ka maikaʻi ʻole o ka ovarian a me ka infertility
• Ka manaʻo kīnā ʻole
• ʻO ka maʻi ʻino loa me nā bacteria (E coli sepsis)
• Nā haʻalulu (haʻalulu) a me nā hana kaʻa i kāohi ʻole ʻia
• Ka make (inā he galactose i ka papaʻai)

Kāhea i kāu kahu mālama ola inā:

• Loaʻa nā maʻi galactosemia i kāu pēpē
• He moʻolelo ʻohana kāu no ka galactosemia a ke noʻonoʻo nei i ka hānau keiki

He mea kōkua ke ʻike i ka moʻolelo o kou ʻohana. Inā loaʻa iā ʻoe ka moʻolelo ʻohana o ka galactosemia a makemake e loaʻa nā keiki, kōkua ke aʻo ʻana i nā kūpuna iā ʻoe e hoʻoholo e pili ana i ka hāpai keiki a me ka hoʻāʻo prenatal. I ka manawa e hana ʻia ai ke kuhi o ka galactosemia, paipai ʻia ka ʻolelo aʻoaʻo no nā lālā ʻē aʻe o ka ʻohana.

Hōʻike nā mokuʻāina he nui i nā keiki hānau hou no ka galactosemia. Inā hōʻike ka hōʻike hānau hou hiki i ka galactosemia, pono lākou e haʻalele i ka hāʻawi ʻana i kā lākou huahana waiū pēpē koke a nīnau i kā lākou mea lawelawe e pili ana i ka loaʻa ʻana o nā hoʻokolohua koko e hiki ke hana e hōʻoia i kahi hōʻoia o ka galactosemia

ʻO Galactose-1-phosphate uridyl transferase hemahema; Ka nele o Galactokinase; Ka nele o Galactose-6-phosphate epimerase; GALT; GALK; GALE; Epimerase deficit galactosemia; Hemahema GALE; Galactosemia ʻano III; UDP-galactose-4; ʻOkoʻa Duarte

• Galactosemia

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