Hōʻike koko Galactose-1-phosphate uridyltransferase

ʻO Galactose-1-phosphate uridyltransferase kahi hōʻike koko e ana i ka pae o kahi mea i kapa ʻia ʻo GALT, kahi e kōkua ai e wāwahi i nā kō waiū i kou kino. ʻO kahi pae haʻahaʻa o kēia lāʻau ke kumu i kapa ʻia he galactosemia.

Pono kahi laʻana koko.

Ke hoʻokomo ʻia ke kui kele e huki i ke koko, manaʻo kekahi mau pēpē i ka ʻeha kaulike. ʻIke wale kekahi i kahi ʻōniʻu a i ʻole kui. Ma hope, loaʻa paha i kahi ʻōpala iki. Hele koke kēia.

He hōʻike kānana kēia no ka galactosemia.

I nā papaʻai maʻamau, ʻo ka hapa nui o nā galactose mai ka breakdown (metabolism) o ka lactose, i loaʻa i ka waiū a me nā huahana waiū. Hoʻokahi o 65,000 mau keiki hānau hou i nele i kahi mea (enzyme) i kapa ʻia ʻo GALT. Me ka ʻole o kēia mea, ʻaʻole hiki i ke kino ke wāwahi i ka galactose, a kūkulu ka mea i loko o ke koko. ʻO ka hoʻomau ʻana o ka hoʻohana ʻana i nā huahana waiū hiki ke alakaʻi iā:

• Ke aniani o nā aniani o ka maka (cataract)
• Scarring o ke ake (cirrhosis)
• Ka holomua ʻole ʻana
• 'Alani melemele o kaʻili a me nā maka (jaundice)
• Hoʻonui ākea
• Kīnā ʻole o ka noʻonoʻo

Hiki i kēia ke lilo i kūlana koʻikoʻi inā ʻaʻole mālama ʻia.

Pono kēlā me kēia mokuʻāina maʻAmelika Hui Pū ʻIa i nā hoʻokolohua loiloi hou e nānā ai no kēia maʻi.

ʻO ka palena maʻamau ʻo 18.5 a 28.5 U / g Hb (ʻāpana o ka gram o hemoglobin).

Hiki ke loli iki nā pae waiwai maʻamau i waena o nā hale hana ʻokoʻa. Hoʻohana kekahi mau labs i nā ana like ʻole a i ʻole hoʻokolohua i nā laʻana like ʻole. E kamaʻilio me kāu kauka e pili ana i ke ʻano o kāu mau hopena hōʻike kikoʻī.

Kuhi kahi hopena maikaʻi ʻole i ka galactosemia. Pono e hana i nā hōʻoia hou e hōʻoia i ka ʻike.

Inā loaʻa kāu keiki i ka galactosemia, pono e nīnau koke ʻia kahi loea genetics. Hoʻokomo ʻia ke keiki i ka papaʻai waiū ʻole i ka manawa koke. ʻO kēia ka manaʻo ʻaʻohe waiū umauma a ʻaʻohe waiū holoholona. Hoʻohana maʻamau ka waiū soy a me nā formula soy pēpē ma ke ʻano he pani.

Hoʻomaʻamaʻa loa kēia hōʻike, no laila ʻaʻole ia e nalo i nā pēpē he nui me ka galactosemia. Akā, hiki i nā hopena maikaʻi ʻole wahaheʻe. Inā loaʻa i kāu keiki kahi hopena kānana maʻamau, pono e hana i nā hoʻokolohua ukali e hōʻoia i ka hopena.

ʻAʻohe liʻiliʻi i ka lawe ʻana i ke koko mai kahi pēpē. ʻOkoʻa nā aʻa a me nā aʻa i ka nui mai kekahi pēpē a i kekahi ʻē aʻe a mai kekahi ʻaoʻao o ke kino i kekahi ʻē aʻe. ʻOi aku ka paʻakikī o ka loaʻa ʻana o kahi laʻana koko mai kekahi mau pēpē ma mua o nā poʻe ʻē aʻe.

ʻO nā pilikia ʻē aʻe e pili ana i ke kau ʻana o ke koko he liʻiliʻi akā hiki ke hoʻopili ʻia:

• Kahe nui ke koko
• Nā punctures he nui e ʻimi i nā uaua
• Pāleʻale a ʻoluʻolu paha
• Hematoma (hōʻiliʻili koko ma lalo o ka ʻili, e hōʻeha ana)
• Maʻiʻaʻai (i iki kamepiula i kēlā me kēia manawa ka ʻili i haki)

Pale Galactosemia; GALT; Gal-1-PUT

Chernecky CC, Berger BJ. Galactose-1-phosphate - koko. I: Chernecky CC, Berger BJ, hua. Nā Hoʻokolohua Laboratory a me nā kaʻina hana Diagnostic. ʻElua huaʻōlelo Piladelapia, PA: Elsevier Saunders; 2013: 550.

Patterson MC. Nā maʻi e pili pū ana me nā mea maʻamau ʻole i ka ʻōnaehana carbohydrate. I: Swaiman K, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2017: chap 39.