Galactose-1-phosphate uridyltransferase kuongororwa kweropa

Galactose-1-phosphate uridyltransferase kuongororwa kweropa kunoyera mwero wechinhu chinonzi GALT, icho chinobatsira kuputsa shuga dzemukaka mumuviri wako. Iyo yakaderera mwero yechinhu ichi inokonzeresa mamiriro anonzi galactosemia.

Muenzaniso weropa unodiwa.

Kana tsono ikaiswa kukweva ropa, vamwe vacheche vanonzwa kurwadziwa zvine mwero. Vamwe vanongonzwa kubaya kana kubaya. Mushure meizvozvo, panogona kuve nekupwanya kushoma. Izvi zvinokurumidza kuenda.

Uku ndiko kuongorora kwekuongorora galactosemia.

Muzvikafu zvakajairwa, yakawanda galactose inouya kubva pakuparara (metabolism) ye lactose, inowanikwa mumukaka uye zvigadzirwa zvemukaka. Mumwe chete pavane makumi matanhatu nemashanu ekuberekwa anozvarwa haana chinhu (enzyme) inonzi GALT. Pasina chinhu ichi, muviri haugone kuputsa galactose, uye chinhu chinowedzera muropa. Kuenderera mberi kwekushandisa kwemukaka zvigadzirwa kunogona kutungamira ku:

• Clouding yemalensi eziso (cataract)
• Kupenga kwechiropa (cirrhosis)
• Kutadza kubudirira
• Ruvara rweganda rweganda kana maziso (jaundice)
• Kuwedzera kwechiropa
• Urema hwekuziva

Ichi chinogona kuve chakakomba mamiriro kana chisina kurapwa.

Nyika dzese muUnited States dzinoda kuongororwa kwevana vachangoberekwa kuti vatarise chirwere ichi.

Iyo yakajairwa renji ndeye 18.5 kusvika 28.5 U / g Hb (zvikamu zvegiramu rehemoglobin).

Zvakajairika kukosha masenduru anogona kusiyana zvishoma pakati pemarabhoritari akasiyana. Mamwe marabhu anoshandisa zviyero zvakasiyana kana anogona kuyedza masampuli akasiyana. Taura nachiremba wako nezve zvinorehwa nemimwe miedzo yako.

Mhedzisiro isina kujairika inoratidza galactosemia. Mimwe miedzo inofanira kuitwa kusimbisa kuongororwa.

Kana mwana wako aine galactosemia, nyanzvi yejenetiki inofanirwa kubvunzwa nekukasira. Mwana anofanirwa kuiswa chikafu chisina mukaka ipapo ipapo. Izvi zvinoreva kuti hapana mukaka wemukaka uye hapana mukaka wemhuka. Mukaka weSoy uye masosi echana evacheche mafomati anowanzo shandiswa sevamiririri.

Uyu muedzo unonzwisisika, saka haushaye vazhinji vacheche vane galactosemia. Asi, manyepo-positi anogona kuitika. Kana mwana wako aine chisina kujairika chekutarisa mhedzisiro, yekutevera-bvunzo dzinofanirwa kuitwa kusimbisa mhedzisiro.

Pane njodzi shoma mukutora ropa kubva kumucheche. Tsinga uye tsinga zvinosiyana muhukuru kubva kune mumwe mucheche kuenda kune mumwe uye kubva kune rimwe divi remuviri kuenda kune rimwe. Kuwana muyero weropa kubva kune vamwe vacheche kunogona kunge kwakaoma kupfuura kune vamwe.

Dzimwe njodzi dzinosangana nekutorwa kweropa idiki asi dzinogona kusanganisira:

• Kuwedzera kubuda ropa
• Akawanda punctures ekutsvaga mutsinga
• Kufenda kana kunzwa kushaya musoro
• Hematoma (ropa rinoungana pasi peganda, zvichikonzera kupwanya)
• Utachiona (hushoma njodzi chero nguva ganda parinovhunika)

Galactosemia skrini; GALT; VaG-1-Isa

Chernecky CC, Berger BJ. Galactose-1-phosphate - ropa. Mune: Chernecky CC, Berger BJ, eds. Rabhoritari Kuyedza uye Maitiro Ekuongorora. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013: 550.

Patterson MC. Zvirwere zvinosanganiswa nezvakanyanya kusagadzikana muhydrohydrate metabolism. Muna: Swaiman K, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Philadelphia, PA: Elsevier; 2017: chits. 39.