An infant with galactosemia appears normal at birth, but within a few days or weeks loses their appetite and starts Vomiting excessively. Yellowing of the skin, mucous membranes, and whites of the eyes (jaundice), enlargement of the liver (hepatomegaly), appearance of amino acids and protein in the urine, growth failure, and, ultimately, accumulation of fluid in the abdominal cavity (ascites) with abdominal swelling (edema) may also occur. Diarrhea, Irritability, Lethargy and a bacterial infection may also be early signs of galactosemia. In time, wasting of body tissues, marked Weakness, and extreme Weight loss occur unless lactose is removed from the diet.
Children with galactosemia who have not received early treatment may show arrested physical and mental development and are particularly susceptible to cataracts in infancy or childhood. In severely affected children, overwhelming infection in the newborn period can cause life-threatening complications, but children with Duarte variant galactosemia may have few signs and no serious impairment(s).
In order to avoid the consequences of galactosemia, which may include liver failure and kidney dysfunction, brain damage and/or cataracts, infants must be treated promptly by removing lactose from the diet. Children treated with this special diet may still experience complications. Speech and learning difficulties and some behavioral problems are still likely to occur. Ovarian impairment is almost always seen in girls with classic galactosemia and is associated with an increase in the blood level of the gonadotropin hormone, follicle-stimulating hormone (FSH); males with galactosemia do not usually exhibit abnormalities in gonadal function.
The above-mentioned complications associated with classic galactosemia and clinical variant galactosemia have not occurred in individuals with Duarte variant galactosemia, a type of biochemical variant galactosemia. However, in a minority of these children, developmental delay and/or a speech abnormality has occurred, but it is unclear whether this is related to accumulation of galactose and its metabolites. Individuals with Duarte variant galactosemia do not need to maintain a special diet.