Uvavanyo lwegazi lwe-Galactose-1-phosphate uridyltransferase

IGalactose-1-phosphate uridyltransferase luvavanyo lwegazi olulinganisa inqanaba lezinto ezibizwa ngokuba yi-GALT, enceda ukwehlisa iswekile yobisi emzimbeni wakho. Inqanaba eliphantsi lale nto libangela imeko ebizwa ngokuba yi-galactosemia.

Isampulu yegazi iyafuneka.

Xa kufakwa inaliti ukutsala igazi, ezinye iintsana ziye zive iintlungu eziphakathi. Abanye baziva behlaba okanye behlaba kuphela. Emva koko, kunokubakho ukugruzuka okuncinci. Oku kuya kuhamba kungekudala.

Olu luvavanyo lokuhlola i-galactosemia.

Kwizidlo eziqhelekileyo, uninzi lwegalactose luvela ekonakaleni (imetabolism) yelactose, efumaneka kubisi nakwiimveliso zobisi. Omnye kwabangama-65,000 abasandul 'ukuzalwa abanakho into (i-enzyme) ebizwa ngokuba yi-GALT. Ngaphandle kwale nto, umzimba awunakudiliza i-galactose, kwaye loo nto iyakha egazini. Ukuqhubeka nokusetyenziswa kweemveliso zobisi kungakhokelela ku:

• Ifu yelensi yeliso (cataract)
• Ukuqhekeka kwesibindi (i-cirrhosis)
• Ukungaphumeleli
• Umbala omthubi wolusu okanye wamehlo (jaundice)
• Ukwandiswa kwesibindi
• Ukukhubazeka kwengqondo

Oku kunokuba yimeko embi ukuba ayinyangwa.

Wonke amazwe e-United States afuna iimvavanyo zokuhlola umntwana osandul 'ukuzalwa ukujonga esi sifo.

Uluhlu oluqhelekileyo lu-18.5 ukuya ku-28.5 U / g Hb (iiyunithi ngegram nganye ye-hemoglobin).

Amaxabiso esiqhelo ahluka kancinci phakathi kweelebhu ezahlukeneyo. Ezinye iilebhu zisebenzisa imilinganiselo eyahlukeneyo okanye zinokuvavanya iisampulu ezahlukeneyo. Thetha nogqirha wakho malunga nentsingiselo yeziphumo zakho zovavanyo.

Iziphumo ezingaqhelekanga zibonisa ukuba galactosemia. Olunye uvavanyo kufuneka lwenziwe ukuqinisekisa isifo.

Ukuba umntwana wakho unegalactosemia, ingcali yemfuza kufuneka kuboniswane nayo kwangoko. Umntwana kufuneka abelwe ukutya okungekho bisi kwangoko. Oku kuthetha ukuba akukho lubisi lwebele kwaye akukho lubisi lwezilwanyana. Ubisi lweSoy kunye neefomula zesoya lweentsana zihlala zisetyenziswa njengezinye.

Olu vavanyo lubuthathaka kakhulu, ngenxa yoko aluphosi uninzi lweentsana ezinegalactosemia. Kodwa, iimpazamo zobuxoki zinokwenzeka. Ukuba umntwana wakho unesiphumo esingaqhelekanga sokuhlolwa, kufuneka kwenziwe iimvavanyo zokulandelela ukuqinisekisa iziphumo.

Akukho mngcipheko wokuthatha igazi elusaneni. Imithambo kunye nemithambo iyahluka ngobukhulu ukusuka kolunye usana ukuya kolunye nokusuka kwelinye icala lomzimba liye kolunye. Ukufumana isampulu yegazi kwezinye iintsana kunokuba nzima ngakumbi kunabanye.

Eminye imingcipheko enxulumene nokutsalwa kwegazi incinci kodwa inokubandakanya:

• Ukopha kakhulu
• Ukugqobhoza okuninzi ukufumana imithambo
• Ukufa isiqaqa okanye ukuziva ungenantloko
• I-Hematoma (igazi eliqokelela phantsi kwesikhumba, kubangela ukutyumka)
• Usulelo (umngcipheko omncinci nangaliphi na ixesha ulusu lwaphukile)

Isikrini seGalactosemia; IGALT; IGal-1-BEKA

IChernecky CC, iBerger BJ. Galactose-1-phosphate - igazi. Ku: IChernecky CC, iBerger BJ, ii-eds. Iimvavanyo zaselebhu kunye neenkqubo zokuqonda isifo. Umhla wesi-6. IPhiladelphia, PA: Elsevier Saunders; Ngo-2013: 550.

IPatterson MC. Izifo ezinxulunyaniswa nokungaqheleki okuphambili kwimetabolism ye-carbohydrate. Ku: Swaiman K, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology. Umhla wesi-6. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 39.