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 …

Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of
galactose metabolism, caused by a deficiency of the enzyme galactose‐1‐phosphate …

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

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

Background Classic galactosemia is an autosomal recessive disorder due to galactose‐1‐
phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do …

BACKGROUND. Inborn errors of metabolism are a significant cause of morbidity and death
among children. Inconsistencies in how individual states arrive at screening strategies …

Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life‐
threatening complications in the neonatal period. It does not however influence the …

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

OBJECTIVES: To determine the long-term outcome of dietary intervention in siblings from 14
Irish families with classical galactosemia (McKusick 230400), an autosomal recessive …

Classical galactosemia is an autosomal recessive condition in which there is near total
absence of the activity of galactose-1-phosphate uridyltransferase. Patients with this …