UDPglucose-hexose 1-phosphate; uridylyltransferase.
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References in periodicals archive ?
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 (GALT) gene.
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 (GALT).