Ekubeni i-galactosemia iyinkathazo engafanelekiyo yefa kunye neempawu zonyango ezingaqhelekanga kuluntu. Iyenzeka malunga no-1 kuma-65,000 okuzalwa eMelika. Ngolu hlalutyo, phucula ukuqonda kwakho kwimeko apho abantwana abakwazi ukuwaphula kwaye basebenzise i-galactose ishukela.
Yintoni i-Galactose?
Nangona abazali abaninzi bengakaze bazive nge-galactose, ngokwenene ushukela oqhelekileyo, kunye kunye ne-glucose, lenza i-lactose.
Uninzi lwabazali beva nge-lactose, iswekile efumaneka kubisi lwebele, ubisi lweenkomo kunye nezinye iintlobo zobisi lwezilwanyana.
I-Galactose idilizwe emzimbeni nge-enzyme galactose-1-phosphate uridylyltransferase (GALT). Ngaphandle kweGALT, i-galactose kunye nemveliso ehlukileyo ye-galactose, kubandakanya i-galactose-1-phosphate galactitol kunye ne-galactonate, yakha kwaye ibe yingozi ngaphakathi kweeseli.
Izimpawu zeGalactosemia
Ukuba kunikezwa ubisi okanye iimveliso zobisi, usana olusana okanye umntwana olune-galactosemia unokudala iimpawu kunye neempawu ezibandakanya:
- ukutya okubi
- ukuhlanza
- jaundice
- ukufumana ubunzima obunzima
- ukungaphumeleli ukuphindaphinda ubunzima, okuqhelekileyo kwenzeke ngexesha elitsha libele ezimbini iiveki ubudala
- ukunyaniseka
- ukucaphuka
- ukuxhamla
- neengxaki
- isibindi esibanzi (hepatomegaly)
- ishukela ephantsi yegazi (i-hypoglycemia)
Kwi-galactosemia engumntwana, le miqondiso ingaqala phakathi kweentsuku zokuqala ukuncelisa okanye ukusela ubisi lweenkomo ezisisiseko somntwana. Ngethamsanqa, ezi zimpawu zokuqala ze-galactosemia zihamba ngokukhawuleza xa umntwana eqaliswa ekudleni okungenanto ye-galactose ukuba ukuxilongwa kwenziwa kusasa.
Ukuxilongwa kweGalactosemia
Uninzi lwabantwana abane-galactosemia bafunyaniswa phambi kokuba bavelise iimpawu ezininzi ze-galactosemia kuba imeko ifunyanwa kwiimvavanyo zokuzalwa zokuzalwa ezenziwa emva kokuba umntwana ezalwe. Bonke abangama-50 bathi kwiintsana zokuhlola ezise-US ze-galactosemia.
Ukuba i-galactosemia ikhunjulwa ngokusekelwe kuvavanyo lokuzalwa lokuzalwa, ukuvavanywa okuqinisekileyo kumanqanaba e-galactose-1-phosphate (gal-1-p) kunye ne-GALT iya kwenziwa.
Ukuba umntwana usenegalactosemia, i-gal-1-p izakuphakama kwaye i-GALT iya kuba iphantsi kakhulu.
I-Galactosemia inokuthi ifunyaniswe ukuba isetyenziswe i-chorionic villus biopsy okanye i-amniocentesis. Abantwana abangafunyaniswa neemvavanyo zokuzalwa eziza kutsalwa kwaye abanokuba nezimpawu banokukrokrwa ukuba babe ne-galactosemia ukuba benento eyaziwa ngokuthi "ukunciphisa izinto" emcinini wabo.
Galactosemia Iintlobo
Kukho ngokwenene ezimbini iintlobo ze-galactosemia, kuxhomekeke kwinqanaba lomntwana weGALT. Abantwana banokuba ne-classic galactosemia, kunye nokusilela okupheleleyo okanye okukufutshane kweGALT. Basenokuba ne-galactosemia okanye i-galactosemia, kunye ne-GALT engenako.
Ngokungafani neentsana ezine-classic galactosemia, iintsana ezine-galactosemia ehlukahlukeneyo, kuquka i-Duarte ehlukile, ngokuqhelekileyo ayinayo impawu.
Ukwelashwa kweGalactosemia
Akukho naluphi unyango lwegalactosemia yeklasi; Kunoko, abantwana baphathwa ngokutya okukhethekileyo kwe-galactose ekukhuseleni kuyo yonke into yobisi kunye nemveliso enobisi ngokubanzi kangangoko kunokwenzeka kubo bonke ubomi babo. Oku kubandakanya:
- isifuba
- Ubisi lweenkomo olusekelwe kumntwana wesisu
- ubisi lweenkomo, ubisi lweebhokhwe okanye ubisi obomileyo
- i-margarine, ibhotela, ushizi, i-ayisikrimu, i-tsokolate yobisi okanye i-yogurt
- ukutya okuluhlu olungabomileyo ubisi obumileyo, i-casin, i-casinate ye-sodium, i-whey, i-whey solids, i-curd, i-lactose okanye i-galactose kwiluhlu lwezithako
Kunoko, iintsana kunye neentsana kufuneka zisele isomso lomntwana olususela kwi-soy, njenge-Enfamil Prosobee Lipil, iSimilac Isomil Advance okanye iNestle Good Start Soy Plus. Ukuba umntwana wakho akayikunyamezela i-formula ye-soy, ifomula ye-elemental, njenge-Nutramigen okanye i-Alimentum ingasetyenziselwa endaweni yoko. Ezi zifomula, nangona kunjalo, zinenani elincinane le-galactose.
Abantwana abakhulileyo banako ukusela isisitye somsi esenziwe yiprotheni ehlukeneyo (iVitamite) okanye isiphuzo selayisi (iRiphu Dream). Abantwana abane-galactosemia kuya kufuneka baphephe ezinye ukutya eziphezulu kwi-galactose, kubandakanywa nesibindi, ezinye izithelo kunye nemifuno kunye nobhontshisi abathile obomileyo, ngakumbi iimbotyi ze-garbanzo.
I-dietitian ebhalisiweyo okanye isifo sezonyango sezilwanyana sinokukunceda ukuba ufumane ukutya okukuphephe ukuba umntwana wakho une galactosemia. Le ngcali inokuqinisekisa ukuba umntwana wakho ufumana i-calcium eyaneleyo kunye namanye amaminerali abalulekileyo kunye namavithamini. Ukongeza, amazinga ase-gal-1-p anokulandelwa ukuze abone ukuba ukutya komntwana kunomdla kakhulu kwi-galactose kuwo.
Izilungiso zeDetary Disputes
Izithintelo zokutya zabantwana abane-galactosemia ehlukahlukeneyo ziphikisana kakhulu. Omnye umgaqo-nkqubo uquka ukukhawulela ubisi kunye nemveliso enobisi, kuquka ubisi lwebele, unyaka wokuqala wobomi. Emva koko, i-galactose ethile iya kuvunyelwa ekudleni xa umntwana uneminyaka elidala.
Enye inketho kukuvumela ukutya okungapheliyo kwaye ubukele ukuphakama kwamanqanaba-gal-1-p. Nangona kubonakala ngathi uphando lusetshenziselwa ukubona ukuba yiyiphi enye into efanelekileyo, abazali banokuqinisekiswa ukuba isifundo esincinci sinye sibonisa ukuba iziphumo zeklinikhi neziphambili kuze kube ngumnyaka omnye zazintle kubantwana abane-Duarte eyahlukileyo i-galactosemia, bobabini kulabo basebenzisa izidlo umqobo kunye nabo bangenalo.
Oko Kufuneka Ukwazi
Ekubeni i-galactosemia yi-autosomal disorder of disorder, ukuba ngaba abazali ababini bayithwala i-galactosemia, baya kuba nethuba elingama-25 lokuba nomntwana onesigalactosemia, ithuba elingamaphesenti ama-50 lokuba nomntwana ophethe i-galactosemia, kunye nama-25 ekhulwini amathuba lokuba nomntwana ngaphandle kwanoma yiphi i-gene ye galactosemia. Abazali bomntwana abane-galactosemia baya kufakwa ukululekwa nge-genetic ukuba baceba ukuba nabantwana abaninzi.
Iintsana ezingabonakaliyo kunye ne-galactosemia zengozini eyongezelelekileyo ye- E. coli septicemia, isifo segazi esisongela ubomi. Ngaphezu koko, abantwana abane-classic galactosemia basenokuba besengozini emfutshane, ukukhubazeka ukufunda, ukufumana ingxaki kunye nokulinganisela, iingxaki, iintetho nokuthetha kweelwimi kunye nokungaphumeleli kwe-ovarian.
Imithombo
I-Ficicioglu, i-C. Duarte (DG) galactosemia: isifundo somqhubi ovavanyo lwezinto eziphilayo kunye neurovelopmental assessment kubantwana abafunyanwe ukuhlolwa kwintsana. UMol Genet Metab - 01-DEC-2008; 95 (4): 206-12.
I-Kliegman: uNelson Inkcazelo yeePediatrics, 18th.
Ridel, KR. Ukuhlaziywa okuhlaziyiweyo kweempembelelo zexesha elide le-galactosemia. I-Pediatr Neurol - 01-SEP-2005; 33 (3): 153-61.