Popeza galactosemia ndi matenda osadziwika omwe amabadwa ndi zizindikiro zake komanso mankhwalawa sudziwika bwino ndi anthu. Zimapezeka pafupifupi 1 pa 65,000 kubadwa ku United States. Ndi ndemangayi, yongolani kumvetsetsa kwa chikhalidwe chimene ana sangathe kuphwanya ndikugwiritsa ntchito galactose shuga.
Kodi Galactose Ndi Chiyani?
Ngakhale makolo ambiri sanamvepo za galactose, kwenikweni ndi shuga wamba, monga pamodzi ndi shuga, amapanga lactose.
Makolo ambiri amva za lactose, shuga yomwe imapezeka mkaka wa m'mawere, mkaka wa ng'ombe ndi mitundu ina ya mkaka wa nyama.
Galactose yathyoka mu thupi ndi enzyme galactose-1-phosphate uridylyltransferase (GALT). Popanda GALT, galactose ndi zinthu zowonongeka za galactose, kuphatikizapo galactose-1-phosphate galactitol ndi galactonate, kumanga ndi kukhala poizoni m'maselo.
Galactosemia Zizindikiro
Ngati wapatsidwa mkaka kapena mankhwala a mkaka, mwana wakhanda kapena khanda lokhala ndi galactosemia akhoza kupanga zizindikiro ndi zizindikiro zomwe zikuphatikizapo:
- kudya moperewera
- kusanza
- jaundice
- kulemera kolemera
- Kulephera kubwereranso kulemera, komwe kawirikawiri kumachitika ndi nthawi yomwe mwana wakhanda ali ndi masabata awiri
- zovuta
- kukwiya
- kugwidwa
- nthata
- chiwindi chachikulu (hepatomegaly)
- shuga wotsika magazi (hypoglycemia)
Kwa mwana wakhanda yemwe ali ndi galactosemia yachikondi, zizindikirozi zikhoza kuyamba mkati mwa masiku oyambirira kuyamwitsa kapena kumwa mkaka wa mkaka wochokera kwa mkaka. Mwamwayi, zizindikiro zoyambirira za galactosemia zimachoka kamodzi mwanayo atayamba kudya zakudya za galactose ngati matendawa atengedwa msanga.
Kudziwa Galactosemia
Ana ambiri omwe ali ndi galactosemia amapezeka asanakhale ndi zizindikiro zambiri za galactosemia chifukwa chikhalidwe chimatengedwa kuyesedwa kobadwa kumene kumene mwanayo abadwa. Onse 50 amanena ku makanda atsopano a US ku galactosemia.
Ngati galactosemia akukayikira pogwiritsa ntchito mayeso oyesa kuyesa, kuyesa kovomerezeka kwa galactose-1-phosphate (gal-1-p) ndi GALT zidzachitika.
Ngati mwanayo ali ndi galactosemia, gal-1-p idzakhala yaikulu ndipo GALT idzakhala yotsika kwambiri.
Galactosemia angathenso kupezedwa pogwiritsa ntchito chorionic villus biopsy kapena amniocentesis. Ana amene sapezeka ndi mayesero oyesa kuwonetsa ana ndipo ali ndi zizindikiro angaganize kuti ali ndi galactosemia ngati ali ndi zina zotchedwa "kuchepetsa zinthu" mu mkodzo.
Galactosemia Mitundu
Pali mitundu iwiri ya galactosemia, malingana ndi msinkhu wa mwana wa GALT. Ana akhoza kukhala ndi galactosemia yachikale, ndi kusowa kwathunthu kapena pafupi kwathunthu kwa GALT. Angakhalenso ndi galactosemia yokhala ndi mbali kapena yosiyana, yomwe ili ndi vuto lochepa la GALT.
Mosiyana ndi ana omwe ali ndi galactosemia yachikale, ana omwe ali ndi galactosemia yosiyana, kuphatikizapo Duarte kusiyana, kawirikawiri alibe zizindikiro.
Matenda a Galactosemia
Palibe mankhwala a galactosemia yachikale; M'malo mwake, ana amawotcha zakudya zapadera za galactose zomwe amapewa mankhwala onse a mkaka ndi mkaka momwe angathere pa moyo wawo wonse. Izi zikuphatikizapo:
- pachifuwa
- Mkaka wa ng'ombe umapangidwira mkaka wa ana
- mkaka wa ng'ombe, mkaka wa mbuzi kapena mkaka wouma
- margarine, batala, tchizi, ayisikilimu, chokoleti cha mkaka kapena yogurt
- zakudya zomwe zimatchula nonfat zouma zakumwa zamchere, casein, sodium caseinate, whey, whey solids, curde, lactose kapena galactose pa mndandanda wa zosakaniza
M'malo mwake, makanda ndi makanda ayenera kumamwa mkaka wa soya, monga Enfamil Prosobee Lipil, Similac Isomil Advance kapena Nestle Good Start Soy Plus. Ngati mwana wanu sakulekerera njira yowonjezera, mankhwala amodzi monga Nutramigen kapena Alimentum angagwiritsidwe ntchito m'malo mwake. Izi, ngakhale zili choncho, zili ndi galactose.
Ana okalamba amatha kumwa mkaka wothandizira mkaka wa vitamini (Vitamite) kapena mpunga (Rice Dream). Ana omwe ali ndi galactosemia ayeneranso kupewa zakudya zina zomwe zili pamwamba pa galactose, kuphatikizapo chiwindi, zipatso zina ndi masamba ndi nyemba zina zouma, makamaka nyemba za garbanzo.
Wolemba zakudya wodzitetezera kapena katswiri wamagetsi amatha kukuthandizani kupeza zakudya zomwe mungapewe ngati mwana wanu ali ndi galactosemia. Katswiriyu angathenso kuonetsetsa kuti mwana wanu akupeza calcium yokwanira komanso mavitamini ena ofunika kwambiri. Kuphatikiza apo, magulu a gal-1-p akhoza kutsatidwa kuti awone ngati zakudya za mwana zili ndi galactose wochulukirapo.
Zokakamiza Zakudya Zokangana
Ana omwe ali ndi magalactosemia omwe amalephera kudya zakudya amatsutsana kwambiri. Pulogalamu imodzi imaphatikizapo kuletsa mkaka ndi zakudya zamkaka, kuphatikizapo mkaka wa m'mawere, chaka choyamba cha moyo. Pambuyo pake, ena a galactose amaloledwa kumadya pamene mwana ali ndi chaka chimodzi.
Njira ina ndiyo kulola zakudya zopanda chololedwa ndi kuwonera kukwera kwa msinkhu wa gal-1-p. Ngakhale zikuwoneka ngati kafukufuku akuchitidwabe kuti awonetse njira yabwino, makolo angatsimikizidwe kuti phunziro limodzi laling'ono linasonyeza kuti zotsatira zachipatala ndi zitukuko mpaka chaka chimodzi zinali zabwino kwa ana omwe ali ndi Duarte osiyanasiyana galactosemia, onse omwe ankadya zakudya Kuletsa ndi omwe sanatero.
Zimene Mukuyenera Kudziwa
Popeza galactosemia ndi vuto lodzipiritsa kwambiri, ngati makolo awiri ali ndi katundu wothandizira galactosemia, adzakhala ndi mwayi wokhala ndi mwana ndi galactosemia, 50 peresenti yokhala ndi mwana yemwe ali ndi chithandizo cha galactosemia, ndipo 25 peresenti amakhala kukhala ndi mwana wopanda majeremusi a galactosemia. Makolo a mwana yemwe ali ndi galactosemia kaŵirikaŵiri amapatsidwa uphungu wokhudzana ndi majini ngati akukonzekera kukhala ndi ana ambiri.
Ana obadwa kumene omwe ali ndi galactosemia ali pangozi yowonjezera ya E. coli septicemia, matenda oopsya a magazi. Komanso, ana omwe ali ndi galactosemia akale akhoza kukhala pangozi yafupikitsidwa, kuwerenga, kulephera, kulephera, kusokonezeka, kulankhula ndi chinenero komanso kulephera kusankhana.
Zotsatira
Ficicioglu, C. Duarte (DG) galactosemia: kufufuza oyendetsa kafukufuku wa zamoyo ndi njira zowonongeka kwa ana omwe amadziwidwa ndi kuyesezedwa kumene. Mol Genet Metab - 01-DEC-2008; 95 (4): 206-12.
Kliegman: Nelson Buku Lophunzitsa za Ana, 18th ed.
Ridel, KR. Ndemanga yatsopano yokhudzana ndi matenda a galactosemia. Pachirombo Neurol - 01-SEP-2005; 33 (3): 153-61.