Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based
guidelines for the treatment and follow-up of CG are currently lacking, and treatment and …

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 …

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

Acute liver failure (ALF) in children is a rare condition that is often fatal without liver
transplantation. The diagnostic work-up is complex, and the etiology is unidentified in up to …

Hypoglycemia is a heterogeneous disorder with many different possible etiologies, including
hyperinsulinism, glycogen storage disorders, fatty acid disorders, hormonal deficiencies …

Classic galactosemia is an inborn error of the metabolism with devastating consequences.
Newborn screening has been successful in markedly reducing the acute neonatal symptoms …

Purpose To test the hypothesis that children with classic galactosemia and speech disorders
are at risk for co-occurring strength and coordination disorders. Method This is a case …

Galactose is a hexose essential for production of energy, which has a prebiotic role and is
essential for galactosylation of endogenous and exogenous proteins, ceramides, myelin …

Although movement disorders (MDs) are known complications, the exact frequency and
severity remains uncertain in patients with classical galactosemia, especially in children. We …