What does galactosemia mean?
Galactosemia is a rare inherited metabolic disorder in which the body cannot properly metabolize galactose, a simple sugar produced when lactose, the main sugar in milk, is digested. As a result, galactose and related compounds accumulate in the blood and tissues. Classic galactosemia usually becomes apparent in newborns, who may develop feeding intolerance, vomiting, jaundice, failure to thrive, liver dysfunction, and cataracts; severe cases can also involve serious infection or neurological problems. Newborn screening can identify the condition before symptoms progress. Prompt diagnosis and removal of lactose and galactose from the diet greatly improve outcomes, although management may remain necessary long term. The word belongs chiefly to clinical, biochemical, and genetic discussion rather than everyday language. It is not simply a synonym for lactose intolerance or milk allergy: galactosemia is a specific inherited error in galactose metabolism. Knowing the distinction matters because dietary treatment can prevent serious complications.
nounAn inherited metabolic disorder in which the body cannot properly metabolize galactose, a sugar produced when lactose is digested, causing galactose and related compounds to accumulate in the blood and tissues. It may appear in infancy with feeding intolerance, jaundice, failure to thrive, and cataracts.
- An inherited disorder of galactose metabolism that causes galactose and its metabolites to accumulate in the blood and tissues.
"Because newborn screening suggested galactosemia, the infant was immediately placed on a lactose- and galactose-free formula."
"Newborn screening detected a pattern strongly suggestive of galactosemia."
"Galactosemia is an inherited error of carbohydrate metabolism that can have serious consequences if it is not recognized promptly."
The plural is grammatically possible but uncommon; clinical prose often uses the phrase cases of galactosemia instead.
"Rare galactosemias have been identified through newborn screening."
A baby with galactosemia may become ill after feeding because the body cannot properly process one of milk's sugars.
Reviewed by Deb Chak, Editor. AI-assisted content curated by RJS Tech Solutions LLP.
Where does galactosemia come from?
The term is a scientific formation combining galact-, from Greek galaktos, meaning milk, through the related sugar name galactose, with -emia, meaning blood condition, which ultimately derives from Greek haima, blood. The same Greek milk root appears in modern scientific words such as galactokinase, galactosuria, and galactolipid. The spelling is standard in American English, while galactosaemia is a traditional British variant.
Related word forms
How galactosemia is actually used
This is primarily a clinical, biochemical, and genetic term rather than an everyday expression. The traditional British spelling is also occasionally encountered as galactosaemia.
Easily confused with galactosemia
Galactosemia is an inherited defect in the metabolism of galactose, whereas lactose intolerance results from insufficient lactase activity and impaired digestion of lactose.