Galactosemia

Galactose-1-Phosphate Uridyl Transferase (GALT) is required for the metabolism of galactose. In classical galactosemia, GALT activity is absent or greatly reduced, which in turn causes galactose levels to rise. Symptoms include intellectual disability, liver damage, cataracts, and death (which may occur within less than 72 hours after birth). Early detection and treatment is critical to prevent damage to the infant.

Screening Method:

The GALT activity is measured using an enzymatic fluorescence assay and the Total Galactose levels are measured using fluorescent galactose oxidase method.

Treatment:

Lactose-free formula to eliminate the source of galactose.

Incidence:

1:50,000 births

West Virginia Office
of Laboratory Services

167 11th Ave
South Charleston, WV 25303

Phone:
304-558-3530