UDPglucose-hexose 1-phosphate; uridylyltransferase.
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One of the etiologic factors for PPOI is deficiency of 17-a hydroxylase (17OH), as well as galactose-1-phosphate uridyltransferase (GALT).
Keywords: Galactose-1-phosphate uridyltransferase deficiency, galactosemia, newborn screening
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
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.
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.
Lack of the enzyme galactose-1-phosphate uridyltransferase causes an increased amount of galactose in the circulating blood (known as galactosemia).
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.
Neonatal screening with the SPOTCHECK automated chemistry analyzer includes tests for phenylalanine, total galactose, uridyltransferase, tyrosine, biotinidase deficiency and G6PD deficiency.
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/ mass spectrometry.