Professional
Technical
IVT
GALT enzyme
Galactose-1-phosphate uridyltransferase, the enzyme measured to detect galactosemia.
Full Definition
GALT enzyme (galactose-1-phosphate uridyltransferase) is the primary enzyme tested in newborn screening for galactosemia. Deficiency of this enzyme leads to accumulation of galactose-1-phosphate, causing hepatic, renal, and neurological complications. The enzyme activity is measured directly from dried blood spots, with severely reduced or absent activity indicating classical galactosemia.
Usage
Usage note: Always specify 'GALT enzyme' rather than just 'GALT' to avoid confusion with the gene name.
In Context
- "GALT enzyme activity was undetectable, confirming classical galactosemia." — Diagnostic report
- "Pseudodeficiency variants can cause reduced GALT enzyme activity without clinical significance." — Genetic counseling note
Also known as
galactose-1-phosphate uridyltransferase
Don't confuse with
GALK enzyme
GALE enzyme