galactosemia

noun

ga·​lac·​to·​semia gə-ˌlak-tə-ˈsē-mē-ə 

: a metabolic disorder that is inherited as an autosomal recessive trait and in which galactose accumulates in the blood due to deficiency of an enzyme catalyzing its conversion to glucose

galactosemic

gə-ˌlak-tə-ˈsē-mik 

adjective

Examples of galactosemia in a Sentence

Recent Examples on the Web

Penelope was born with classic galactosemia, a rare genetic metabolic disorder that can cause lifelong health complications. —ABC News, 23 July 2023

And compared with the rest of Europe, the Irish have higher rates of cystic fibrosis, celiac disease, and galactosemia, a serious metabolic disorder that prevents the breakdown of sugars in dairy, legumes, and organ meats. —National Geographic, 14 Dec. 2017

Word History

Etymology

galactose + -emia (probably after German Galactosämie)

First Known Use

1932, in the meaning defined above

Medical Definition

galactosemia

noun

ga·​lac·​tos·​emia

variants or chiefly British galactosaemia

gə-ˌlak-tə-ˈsē-mē-ə 

: a metabolic disorder inherited as an autosomal recessive trait in which galactose accumulates in the blood due to deficiency of an enzyme catalyzing its conversion to glucose

… there might someday be a panel of simultaneous tests for cystic fibrosis, phenylketonuria and galactosemia, three of the most important genetic disorders among white Americans.

—Harold M. Schmeck, Jr., The New York Times

galactosemic adjective

or chiefly British galactosaemic

-mik 

galactosemic infants