Ukuhlolwa kwegazi kweGalactose-1-phosphate uridyltransferase

IGalactose-1-phosphate uridyltransferase ukuhlolwa kwegazi okukala izinga lezinto ezibizwa nge-GALT, ezisiza ukwehlisa ushukela wobisi emzimbeni wakho. Izinga eliphansi lale nto lidala isimo okuthiwa i-galactosemia.

Kudingeka isampula yegazi.

Lapho inaliti ifakwa ukudonsa igazi, ezinye izinsana zizwa ubuhlungu obulinganiselayo. Abanye bazizwa beshaywa noma betinyelwa kuphela. Ngemuva kwalokho, kungahle kube nokulimala okuncane. Lokhu maduzane kuyaphela.

Lokhu ukuhlolwa kokuhlolwa kwe-galactosemia.

Ekudleni okujwayelekile, iningi le-galactose livela ekuwohlokeni (imetabolism) ye-lactose, etholakala obisini nasemikhiqizweni yobisi. Ingane eyodwa kwezingu-65,000 ezisanda kuzalwa ayinayo into (i-enzyme) ebizwa nge-GALT. Ngaphandle kwale nto, umzimba awukwazi ukudiliza i-galactose, futhi into iyakha egazini. Ukusetshenziswa okuqhubekayo kwemikhiqizo yobisi kungaholela ku:

• Ukufiphazwa kwelensi yeso (ukwelula amehlo)
• Ukuqubuka kwesibindi (i-cirrhosis)
• Ukwehluleka ukuchuma
• Umbala ophuzi wesikhumba noma wamehlo (i-jaundice)
• Ukwandiswa kwesibindi
• Ukukhubazeka kwengqondo

Lesi kungaba yisimo esibi uma singelashwa.

Zonke izifunda e-United States zidinga izivivinyo zokuhlolwa kwezinsana ezisanda kuzalwa ukuhlola lesi sifo.

Ububanzi obujwayelekile bungu-18.5 kuye ku-28.5 U / g Hb (amayunithi ngegramu ngalinye le-hemoglobin).

Ububanzi bamanani ajwayelekile bungahluka kancane phakathi kwamalabhorethri ahlukene. Amanye amalebhu asebenzisa izilinganiso ezahlukahlukene noma angahlola amasampula ahlukile. Khuluma nodokotela wakho mayelana nencazelo yemiphumela yakho ethile yokuhlolwa.

Umphumela ongajwayelekile uphakamisa i-galactosemia. Ukuhlolwa okwengeziwe kufanele kwenziwe ukuqinisekisa ukuxilongwa.

Uma ingane yakho ine-galactosemia, uchwepheshe wezofuzo kufanele aboniswe ngokushesha. Ingane kufanele ifakwe ekudleni okungenalo ubisi ngokushesha. Lokhu kusho ukuthi alukho ubisi lwebele futhi alukho ubisi lwesilwane. Ubisi lweSoy namafomula wesoya wezinsana ngokuvamile asetshenziswa njengezinto ezingangena esikhundleni.

Lokhu kuhlolwa kubucayi kakhulu, ngakho-ke akuphuthelwa izinsana eziningi ezine-galactosemia. Kepha, izinzuzo ezingamanga zingenzeka. Uma ingane yakho inomphumela wokuhlola okungajwayelekile, kufanele kwenziwe izivivinyo zokulandelela ukuqinisekisa umphumela.

Kunobungozi obuncane bokuthatha igazi enganeni. Imithambo nemithambo yegazi kuyahluka ngosayizi osaneni olulodwa kuye kolunye uhlangothi lomzimba kuya kolunye. Ukuthola isampula segazi kwezinye izingane kungaba nzima kakhulu kunezinye.

Ezinye izingozi ezihambisana nokudonswa igazi zincane kepha zingafaka:

• Ukopha ngokweqile
• Ukubhoboza okuningi ukuthola imithambo
• Ukuquleka noma uzizwe unekhanda elincane
• I-Hematoma (ukuqoqwa kwegazi ngaphansi kwesikhumba, kubangele ukulimazeka)
• Ukutheleleka (ingozi encane noma kunini lapho isikhumba siphukile)

Isikrini seGalactosemia; GALT; IGal-1-BEKA

IChernecky CC, iBerger BJ. I-Galactose-1-phosphate - igazi. Ku: IChernecky CC, iBerger BJ, ama-eds. Ukuhlolwa Kwelabhoratri Nezinqubo Zokuxilonga. Umhlaka 6. IPhiladelphia, PA: Elsevier Saunders; 2013: 550.

UPatterson MC. Izifo ezihambisana nokungajwayelekile okuyisisekelo ku-carbohydrate metabolism. Ku: Swaiman K, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2017: isahluko 39.