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
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
Datum izdavanja:
22.2.2024.
Posjeta: 111 *