Galactosaemia

Part of speech: noun

Definitions

1. A hereditary metabolic disorder results from the impairment to properly process galactose due to the lack of an essential enzyme
2. This condition manifests as an inability to effectively break down galactose due to insufficient activity of a specific enzyme involved in its metabolism
3. A genetic disease characterized by the body's failure to metabolize galactose properly caused by missing or deficient enzyme activity

Etymology: Galactosaemia is a medical coinage, built from two parts that each have their own history. The first part, "galactose", was named for its milk-sugar origins: it comes from the Greek "gala" (genitive "galaktos"), meaning milk, combined with the chemical suffix "-ose" used for sugars. Galactose is one of the two sugars that make up lactose, the sugar found in milk, so the name points directly to where the compound was first identified. The second part, "-aemia", is the standard medical suffix for a substance found in the blood, from the Greek "haima", blood. The American spelling "galactosemia" drops the "ae" to "e", which is why both forms appear. Together the parts describe a condition in which galactose accumulates in the blood because the body cannot process it properly.