Skoči na glavni sadržaj

Sažetak sa skupa

https://doi.org/10.26800/LV-145-supl8-8

Liver failure in newborn – mind galactosemia

Marija Ćorić
Marija Bukvić
Krunoslav Budimir
Danijela Petković Ramadža


Puni tekst: engleski pdf 228 Kb

str. 17-17

preuzimanja: 148

citiraj


Sažetak

Classic galactosemia is a rare autosomal recessive disease caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency. GALT converts galactose to glucose, if deficient, galactose-1-phosphate and other metabolites accumulate in the body. The main signs of GALT deficiency are liver failure, susceptibility to E. coli sepsis, and cataracts du-ring the neonatal period. Untreated disease causes early death. Restriction of galactose prevents life-threatening complications. Still, the majority of patients experience long-term chronic complications, such as delayed speech, movement disorders, and ovarian insufficiency in women.

Ključne riječi

classic galactosemia, galactose, jaundice, neonatal liver failure

Hrčak ID:

314086

URI

https://hrcak.srce.hr/314086

Datum izdavanja:

22.2.2024.

Posjeta: 467 *