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