The most common form of this disease is caused by galactose-1-phosphate uridyltransferase
(GALT) enzyme activity deficiency and is often referred to as classic galactosaemia.
Direct analysis of enzyme activity is used in testing for galactosemia (galactose-1-phosphate uridyltransferase
deficiency) and biotinidase deficiency.
Partial deficiency of galactose-1-phosphate uridyltransferase
. European Journal of Pediatrics, 154(7) (Suppl.
It was a rare, inborn error of metabolism, an autosomal recessively inherited disorder caused by the absence of a single enzyme, galactose-l-phosphate uridyltransferase
. The enzyme is essential for the breakdown of galactose, one of two components of lactose, the sugar found in both human and cow milk.
Lack of the enzyme galactose-1-phosphate uridyltransferase
causes an increased amount of galactose in the circulating blood (known as galactosemia).
Quantification of galactose-1-phosphate uridyltransferase
enzyme activity by liquid chromatography-tandem mass spectrometry.
Neonatal screening with the SPOTCHECK automated chemistry analyzer includes tests for phenylalanine, total galactose, uridyltransferase
, tyrosine, biotinidase deficiency and G6PD deficiency.
Classic galactosemia is caused by the near total absence of galactose-1-phosphate uridyltransferase
(GALT) activity and the resulting accumulation of markedly increased concentrations of galactose and its metabolites.
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase
in human lymphoblasts.
Mutation database for the galactose-1-phosphate uridyltransferase
Galactosaemia and MPV17-related hepatocerebral mitochondrial DNA depletion syndrome were considered, but the common c.404C >T (p.5135L) and c.C106T (P.Q36X) mutations in the galactose-1-phosphate uridyltransferase
(GALT) and MPV17 genes, respectively, were not detected.
Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism caused by a severe deficiency of the enzyme galactose-1-phosphate uridyltransferase