Galactosemia

  • Alternative Names

    Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency


    Symptoms

    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 (jaundice)
    • Vomiting

    Signs and tests

    Signs include:

    • Amino acids in the urine and/or blood plasma (aminoaciduria)
    • Enlarged liver (hepatomegaly)
    • Fluid in the abdomen (ascites)
    • Low blood sugar (hypoglycemia)

    Newborn screening in many states will test for this condition.

    Tests include:

    • Blood culture for bacteria infection (E. coli sepsis)
    • Enzyme activity 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 sugar while the infant is being fed breast milk or a formula containing lactose