Njengoba i-galactosemia iyinkinga engavamile eyayizuzwa ngefa layo izimpawu zayo futhi ukwelashwa akujwayelekile kubantu. Kwenzeka cishe ku-1 kwabangu-65,000 abazalwa ku-United States. Ngalokhu kubuyekezwa, phuthukisa ukuqonda kwakho ngesimo lapho izingane zingakwazi ukuphula khona bese zisebenzisa i-galactose ushukela.
Yini i-Galactose?
Nakuba abazali abaningi bengakaze bazizwe nge-galactose, empeleni kuyishukela evamile kakhulu, njengoba kuhlanganise ne-glucose, yakha i-lactose.
Abazali abaningi baye bazwa nge-lactose, ushukela olutholakala ebisi lwebele, ubisi lwezinkomo nezinye izinhlobo zobisi lwezilwane.
I-Galactose iphukile emzimbeni yi-enzyme galactose-1-phosphate uridylyltransferase (GALT). Ngaphandle kwe-GALT, i-galactose nemikhiqizo ehlukumezayo ye-galactose, kuhlanganise ne-galactose-1-phosphate galactitol ne-galactonate, yakha futhi ibe yi-toxic ngaphakathi kwamaseli.
Izimpawu zeGalactosemia
Uma kunikwa ubisi noma imikhiqizo yobisi, usana olusanda kuzalwa noma usana olune-galactosemia lungakha izibonakaliso nezimpawu ezifaka:
- ukudla okunomsoco
- ukuhlanza
- i-jaundice
- ukuzuza okunciphisa umzimba
- ukwehluleka ukuphindaphinda isisindo sokuzalwa, okuyinto evame ukuqhubeka ngesikhathi ingane esanda kuzalwa inamasonto amabili ubudala
- ubuqili
- ukucasuka
- ukuhlukunyezwa
- i-cataracts
- isibindi esikhulu (i-hepatomegaly)
- ishukela eliphansi legazi (hypoglycemia)
Ukuze usana olune-galactosemia yesiqalo, lezi zimpawu zingase ziqale zingakapheli izinsuku zokuqala ukuncelisa noma ukuphuza ubisi lwe-milk based based milk formula. Ngenhlanhla, lezi zimpawu zokuqala ze-galactosemia zivame ukuhamba lapho umntwana eqaliswa ekudleni okungenalutho kwe-galactose uma ukuxilongwa kwenziwa ngokushesha.
Ukuxilongwa kweGalactosemia
Iningi lezingane ezine-galactosemia zitholwa ngaphambi kokuba zihlakulele izimpawu eziningi ze-galactosemia ngoba isimo sithathwa ekuhlolweni okuzalwa okusha okuzalwa lapho kwenziwa ingane. Bonke abangu-50 bathi emazwaneni asetshenziswe e-US e-galactosemia.
Uma i-galactosemia icatshangwa ngokususelwa ekuhlolweni kokuhlolwa kokuzalwa, ukuhlolwa okuqinisekisiwe kwamazinga we-galactose-1-phosphate (gal-1-p) ne-GALT izokwenziwa.
Uma usana luba ne-galactosemia, i-gal-1-p izoba phezulu futhi i-GALT izoba kakhulu kakhulu.
I-Galactosemia ingase itholakale futhi ngezikhathi ezithile ngokusebenzisa izivivinyo ze-chorionic villus biopsy noma amniocentesis. Izingane ezingatholakali ukuhlola ukuzalwa kwezinsana futhi zinezibonakaliso zingase zisolakala ukuthi zine-galactosemia uma zikhona okuthiwa "ukunciphisa izinto" emcinini wazo.
Izinhlobo ze-Galactosemia
Kukhona ngempela izinhlobo ezimbili ze-galactosemia, kuye ngezinga lezingane le-GALT. Izingane zingaba ne-classic galactosemia, ngokuntuleka kweGALT okuphelele noma okuphelele. Kungenzeka futhi babe ne-galactosemia eyingxenye noma ehlukile, ene-GALT engenakho okuyingxenye.
Ngokungafani nezinsana ezine-classic galactosemia, izinsana ezine-galactosemia ehlukahlukene, ezihlanganisa i-Duarte ehlukile, ngokuvamile azikho izimpawu.
Ukwelashwa kweGalactosemia
Ayikho ikhambi ye-galactosemia yakudala; Kunalokho, izingane ziphathwa ngokudla okungavamile kwe-galactose lapho zigwema yonke imikhiqizo yobisi nemikhiqizo yobisi ngangokunokwenzeka kuyo yonke impilo yabo. Lokhu kuhlanganisa:
- isifuba
- ubisi lwezinkomo olususelwa emthonjeni wezingane
- ubisi lweenkomo, ubisi lwezimbuzi noma ubisi owomile
- i-margarine, ibhotela, ushizi, i-ayisikhilimu, ushokoledi ubisi noma i-yogurt
- ukudla okudweba okungenayo ubisi obomile obomile, i-casein, i-caseinate ye-sodium, i-whey, i-whey solids, i-curdi, i-lactose noma i-galactose ohlwini lwalezi izithako
Esikhundleni salokho, izinsana nezinsana kufanele ziphuze ifomula yomntwana wesosi, njenge-Enfamil Prosobee Lipil, iSimilac Isomil Advance noma i-Nestle Good Start Soy Plus. Uma ingane yakho ingabekezelelisi ifomula ye-soy, ifomula eyisisekelo, njenge-Nutramigen noma i-Alimentum ingasetshenziswa esikhundleni salokho. Lezi fomu, noma kunjalo, zinamanani amancane we-galactose.
Izingane ezindala zingaphuza isilwane esibisiwe se-soy protein (Vitamite) noma isiphuzi selayisi (i-Rice Dream). Izingane ezine-galactosemia kuzodingeka futhi zigweme ezinye ukudla eziphezulu kwegalactose, kubandakanya isibindi, izithelo nezinye imifino kanye nobhontshisi abathile omisiwe, ikakhulukazi ubhontshisi we-garbanzo.
I-dietitian ebhalisiwe noma isazi sezinsana zezingane esingabazali singakusiza ukuthi ubone ukuthi yikuphi ukudla okumele ugweme uma ingane yakho ine-galactosemia. Le ngcweti ingabuye isiqiniseke ukuthi ingane yakho ithola i-calcium eyanele namanye amaminerali abalulekile namavithamini. Ngaphezu kwalokho, amazinga we-gal-1-p angalandelwa ukuze abone ukuthi ukudla komntwana kunomdlavuza omkhulu kakhulu kuwo.
Imikhawulo yokudla okuphikisanayo
Imikhawulo yokudla yezingane ezine-galactosemia ehlukahlukene iphikisana kakhulu. Enye yeprotocol ihilela ukuvimbela ubisi nemikhiqizo equkethe ubisi, kubandakanya ubisi lwebele, ngomnyaka wokuqala wokuphila. Emva kwalokho, ezinye i-galactose zizovunyelwa ekudleni uma ingane iseneminyaka eminyaka ubudala.
Enye indlela ukuvumela ukudla okungavinjelwe nokubuka ukuphakama kwamazinga we-gal-1-p. Nakuba kubonakala sengathi ucwaningo lusetshenziselwa ukubona ukuthi yikuphi okukhethayo, abazali bangase baqinisekiswe ukuthi isifundo esisodwa esincane sibonise ukuthi imiphumela yemitholampilo kanye nentuthuko kuze kube yonyaka owodwa yayihle kubantwana abane-Duarte ehlukile ye-galactosemia, kokubili kwalabo ababeqhuba ukudla umkhawulo nalabo abangazange.
Okudingeka Ukwazi
Njengoba i-galactosemia iyinkinga yokuguqula i-autosomal, uma abazali ababili bephethe i-galactosemia, bayoba nethuba elingamaphesenti angu-25 lokuba nengane ene-galactosemia, ithuba elingamaphesenti angu-50 lokuba nomntwana ophethe i-galactosemia, futhi amaphesenti angama-25 amathuba wokuba nengane ngaphandle kwanoma yiziphi izakhi zofuzo ze-galactosemia. Abazali bomntwana onesifo se-galactosemia ngokuvamile bayonikezwa ukwelulekwa ngezofuzo uma behlela ukuba nezingane eziningi.
Izinsana ezingabonakali nge-galactosemia zengozini enkulu ye- E. coli septicemia, isifo segazi esisongela ukuphila. Ngaphezu kwalokho, izingane ezine-classic galactosemia zingase zibe engozini yezinga elifushane, ukukhubazeka kokufunda, izinkinga zokungena nokulinganisela, ukuthuthumela, inkulumo nokukhathazeka kolimi nokuhluleka kwe-ovarian ngaphambi kwesikhathi.
Imithombo
I-Ficicioglu, i-C. Duarte (DG) i-galactosemia: isifundo sezinyathelo zokuhlolwa kwamakhemikhali kanye neurovelopmental ekutholeni izingane ezitholwe ngokuhlola ukuzalwa okusha. I-Mol Genet Metab - 01-DEC-2008; 95 (4): 206-12.
I-Kliegman: UNelson Bookbook of Pediatrics, 18th ed.
Ridel, KR. Ukubuyekezwa okubuyekeziwe kwemiphumela yesikhathi eside ye-neurological ye-galactosemia. I-Pediatr Neurol - 01-SEP-2005; 33 (3): 153-61.