Galactosemia

noun

1. An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose. The disorder results in elevated levels of galactose in the blood and, if untreated, can lead to mental retardation and eye and liver abnormalities.
2. A genetic metabolic disorder characterized by an inability to metabolize galactose properly
3. a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth