Sezvo galactosemia inowanzogara nhaka yezvirwere zviratidzo zvayo uye kurapwa kwacho zvisingazivikanwi kuvanhu vose. Izvo zvinowanikwa munenge 1 pavakaberekerwa 65,000 muUnited States. Nekuongorora uku, shandura kunzwisisa kwako kwechiitiko umo vana vasingakwanisi kuputsa uye kushandisa galactose shuga.
Chii chinonzi Galactose?
Kunyange zvazvo vabereki vakawanda vasina kumbobvira vanzwa nezvegalactose, inotova shuga yakawanda kwazvo, pamwe pamwe neglucose, inogadzira lactose.
Vabereki vakawanda vakanzwa nezve lactose, shuga inowanikwa mumukaka wemucheche, mukaka wemombe uye mamwe maikaka emukaka wemhuka.
Galactose yakavhunika mumuviri ney enzyme galactose-1-phosphate uridylyltransferase (GALT). Pasina GALT, galactose uye zvigadziriswa zvegalactose, kusanganisira galactose-1-phosphate galactitol uye galactonate, kuvaka uye kuva chepfu mukati memasero.
Galactosemia Symptoms
Kana akapiwa mukaka kana mukaka wemishonga, mucheche kana mwana ane galactosemia anogona kutanga zviratidzo uye zviratidzo zvinosanganisira:
- kudya zvakashata
- kurutsa
- jaundice
- kushaya uremu
- kukundikana kudzokazve kuberekwa, izvo zvinowanzoitika nenguva iyo mwana achangoberekwa vhiki mbiri
- lethargy
- kutsamwa
- seizures
- cataract
- chiropa chakawedzerwa (hepatomegaly)
- shuga shoma yeropa (hypoglycemia)
Kune kacheche ine galactosemia yekare, zviratidzo izvi zvingatanga mukati memazuva ekutanga kunwisa kana kunwa mukaka wemukaka wakagadzirwa nemwana. Nenzira inofadza, zviratidzo izvi zvekare zvegalactosemia zvinowanzoenda kana mwana atanga pazvokudya zvisina galactose kana kuongororwa kunoitwa nokukurumidza.
Kuongororwa kweGalactosemia
Vana vazhinji vane galactosemia vanoonekwa vasati vatanga zviratidzo zvakawanda zvegalactosemia nokuti mamiriro acho ezvinhu anotorwa paanenge achangoberekwa kuongorora kuongorora kunoitwa kana mwana aberekwa. Vose makumi mashanu vanofananidzira mucheche rekuedza kuUnited States yeGalactosemia.
Kana galactosemia inenge ichifungidzirwa zvichibva pakuzvarwa patsva kuongorora, kuongororwa kuongororwa kwemazinga e galactose-1-phosphate (gal-1-p) uye GALT ichaitwa.
Kana mucheche ane galactosemia, gal-1-p ichave yakakwirira uye GALT ichava yakadzika.
Galactosemia inogonawo kuonekwa kuti inoshandisa chirionic villus biopsy kana amniocentesis. Vana vasina kuongororwa nechechecheche yekuongorora miedzo uye vane zviratidzo zvingafungidzirwa kuti vane galactosemia kana vane chimwe chinhu chinozivikanwa se "kuderedza zvinhu" mumuguta wavo.
Galactosemia Aina
Iko kune zvidimbu zviviri zvegalactosemia, zvichienderana nehuwandu hwevana hweGALT. Vana vanogona kuva negalactosemia yekare, ine kukwana kwakakwana kana kwakakwana kwakakwana kweGALT. Vangave vane galactosemia yakasarura kana kuti yakasiyana, ine kukwana kweGALT.
Kusiyana nemucheche ane galactosemia yekare, vana vane galactosemia yakasiyana, kusanganisira Duarte akasiyana, kazhinji havana zviratidzo.
Galactosemia Treatments
Ikoko hakuna mushonga wegalactosemia yekare; panzvimbo iyo, vana vanobatwa nechingwa chakasarudzwa chema galactose umo vanodzivisa mairi ose emukaka nemukaka zvakanyanya sezvinobvira kwehupenyu hwavo hwose. Izvi zvinosanganisira:
- pachipfuva
- mukaka wemhou hunobva mumwana
- mukaka wemhou, mukaka wembudzi kana mukaka wakaoma
- margarine, bata, cheese, ice cream, chokoti yekaka kana yogurt
- Zvokudya izvo zvinoratidzira nonfat zvakaoma mukaka solids, casein, sodium caseinate, whey, whey solids, makumbo, lactose kana galactose pane urongwa hwezvigadzirwa
Pane kudaro, macheche nevana vanofanirwa kunwa muto we soy-based, wakadai saEnfamil Prosobee Lipil, Similac Isomil Advance kana Nestle Good Start Soy Plus. Kana mwana wako asingabvumiri mazai e soy, chimiro chekutanga, chakadai seNutramigen kana Alimentum chingashandiswa panzvimbo. Aya maitiro, zvisinei, ane zvishoma zvegalactose.
Vana vakwegura vanogona kunwa mukaka wakabatanidzwa wakagadzirwa soy protein soy protein (Vitamite) kana rizi kunwa (Rice Dream). Vana vane galactosemia vachafanirwawo kudzivisa zvimwe zvekudya zvakanyanya mu galactose, kusanganisira chiropa, zvimwe michero nemiriwo uye dzimwe mbesa dzakaomeswa, kunyanya ghanazo.
Munhu anyoresa chiremba wezvokudya kana chiremba wezvemagetsi anokwanisa kukubatsira kuti uone kuti ndezvipi zvokudya zvingadzivisa kana mwana wako ane galactosemia. Uyu nyanzvi anogonawo kuva nechokwadi chokuti mwana wako ari kuwana calcium yakakwana uye mamwe emaminera anokosha uye mavitamini. Mukuwedzera, gal-1-p mazinga anogona kuteverwa kuti aone kana kudya kwevana kune galactose yakawanda mairi.
Zvinopesana Nezvokudya Zvokudya
Zviratidzo zvekudya zvevana vane mavara akasiyana-siyana galactosemia zvinopesana zvikuru. Imwe protocol inosanganisira kudzivisa mukaka nemiti yakabatwa nemukaka, kusanganisira mukaka wemvere, wegore rokutanga rehupenyu. Mushure meizvozvo, vamwe galactose vaizobvumirwa mune zvekudya apo mwana aine gore rimwe chete.
Imwe nzira ndeyekubvumira kudya kusingabvumirwi uye kutarisa kwekumusoro kwe gal-1-p mazinga. Kunyange zvazvo zvichiita sokutsvakurudza kuchiri kuitwa kuti zvione kuti ndeipi nzira yakanakisisa, vabereki vanogona kusimbiswa kuti imwe dzidzo shoma yakaratidza kuti kliniki uye kubudirira kwezvibereko kusvikira kune rimwe gore zvakanaka kune vana vane Duarte variant galactosemia, vose kune avo vaiita kudya kudziviswa uye avo vasina.
Zvaunoda Kuziva
Sezvo galactosemia inonzi autosomal recessive disorder, kana vabereki vaviri vari vatakuri vegalactosemia, vachava nemuzana 25 mukana wekuva nemwana ane galactosemia, 50 muzana mukana wokuva nemwana anotakura galactosemia, uye 25 muzana mukana yokuva nemwana pasina chero mazamu e galactosemia. Vabereki vemwana vane galactosemia vanowanzopiwa kupa mazano ekurapa kana vachironga kuva nevana vakawanda.
Vana vasina kuberekwa vane galactosemia vari mungozi yakawanda yeE E. seliticticemia, chirwere chinoparadza ropa. Uyezve, vana vane galactosemia yekare vanogona kunge vari pangozi yekukurumidza, kudzidzira kushaya hutachiwana, matambudziko ehutano uye kuenzanisa, kudengenyeka, kutaura uye matambudziko emutauro uye kukanganisa kusina nguva.
Sources
Ficicioglu, C. Duarte (DG) galactosemia: chidzidzo chekutsvaga nezvehupenyu hwehupenyu uye neurodevelopmental assessment in vana vanoonekwa nekuzvarwa patsva. Mol Genet Metab - 01-DEC-2008; 95 (4): 206-12.
Kliegman: Nelson Nhamba yeBhuku rePediatrics, 18th ed.
Ridel, KR. Kuongorororwa patsva kwehutano hwemazuva emagumisiro emugalactosemia. Pediatr Neurol - 01-SEP-2005; 33 (3): 153-61.