Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency
Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.
Convulsions Irritability Lethargy Poor feeding(baby refuses to eat formula containing milk)
- Poor weight gain
- Yellow skin and whites of the eyes (
Signs and tests
- Amino acids in the urine and/or blood plasma (
- Enlarged liver (
- Fluid in the abdomen (
- Low blood sugar (
Newborn screening in many states will test for this condition.
Blood culturefor bacteria infection (E. coli sepsis) Enzymeactivity in the red blood cells Ketones in the urine
- Prenatal diagnosis by directly measuring the enzyme
galactose-1-phosphate uridyl transferase
- "Reducing substances" in the infant's urine, and normal or
low blood sugarwhile the infant is being fed breast milk or a formula containing lactose