The diagnosis of uridyl transferase deficiency should be considered
in newborns, older infants, or children with any of these clinical
manifestations: jaundice, hepatomegaly, vomiting, hypoglycemia,
convulsions, lethargy, irritability, feeding difficulties, poor
weight gain, aminoaciduria, nuclear cataracts, vitreous hemorrhage, hepatic
cirrhosis, ascites, splenomegaly, or mental retardation. Patients
with galactosemia are at increased risk for Escherichia
coli neonatal sepsis; the onset of sepsis often precedes
the diagnosis of galactosemia. Pseudotumor cerebri may occur and
may cause a bulging fontanel.
When the diagnosis is not made at birth, damage to the liver
(cirrhosis) and brain (mental retardation) becomes increasingly
severe and irreversible. Symptoms are milder and improve when milk
is temporarily withdrawn and replaced by lactose-free nutrition.
Partial transferase deficiency due to Duarte variant is generally
asymptomatic. It is more frequent than classic galactosemia and
is often diagnosed in mass newborn screening because of moderately
elevated blood galactose or low transferase activity.