GALT
Pronunciation: galt
Also written as: GALT — galactose-1-phosphate uridyltransferase
Galactose-1-phosphate uridyltransferase, the enzyme measured to screen for classic galactosemia.
Full Definition
GALT (galactose-1-phosphate uridyltransferase) is a key enzyme in the galactose metabolism pathway whose deficiency causes classic galactosemia, a serious metabolic disorder. In newborn screening, GALT enzyme activity is measured from dried blood spots to identify infants at risk. Severely reduced or absent GALT activity indicates the need for immediate dietary intervention to prevent intellectual disability, ovarian dysfunction, and other complications. The test is highly sensitive but requires careful interpretation of borderline values.
Usage
Usage note: Always capitalize when referring to the enzyme; use lowercase 'galt' only when discussing the gene.
In Context
- "The GALT enzyme activity was below the cutoff threshold, requiring immediate follow-up." — Laboratory report
- "GALT deficiency screening has significantly reduced the incidence of severe galactosemia complications." — Program evaluation report