galactosemia
Pronunciation: gah-lak-toe-SEE-mee-ah
A rare genetic disorder affecting galactose metabolism that can cause severe complications if untreated, detected through newborn screening.
Full Definition
Galactosemia is an autosomal recessive disorder caused by deficiencies in enzymes required for galactose metabolism, most commonly galactose-1-phosphate uridylyltransferase (GALT). Without treatment, affected infants develop hepatomegaly, cataracts, intellectual disability, and ovarian dysfunction. Newborn screening typically measures GALT enzyme activity or galactose-1-phosphate levels. Early detection allows for immediate implementation of a galactose-restricted diet, which can prevent most complications if started promptly.
Usage
Usage note: Note the spelling with 'emia' not 'aemia'. Do not confuse with lactose intolerance, which is a different condition.
In Context
- "Newborns with galactosemia require immediate cessation of breast milk and regular formula feeding." — Treatment protocol
- "The screening program identifies galactosemia cases before clinical symptoms develop." — Public health documentation