Background and aims Monosaccharides are important components of the diet, where the
sweetness of these common sugars draw animals to eat the tissue within which they are …

Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …

Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused
by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A …

Classic galactosemia is a rare inherited disorder of galactose metabolism caused by
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …

Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the
inability to metabolize galactose, a sugar contained in milk (the main source of nourishment …

Malnutrition and sarcopenia are common in patients with chronic liver disease and are
associated with increased risk of decompensation, infections, wait-list mortality and poorer …

A deficiency of each of the three enzymes important in galactose metabolism, galactose-1-
phosphate uridyltransferase (GALT), galactokinase (GALK) and UDP-galactose 4 …

Despite recent advances, the causes of and effective therapies for pediatric chronic
cholestatic diseases remain elusive, and many patients progress to liver failure and need …

Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency
is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a …

Despite many decades of research involving both human subjects and model systems, the
underlying pathophysiology of long-term complications in classic galactosemia (CG) …