Etymed
galactosemia
Definition
A metabolic disorder characterized by the inability to properly metabolize galactose, resulting in its accumulation in the blood and tissues
Clinical context
A newborn presents with poor feeding, vomiting, and lethargy within the first week of life. The infant has bilateral cataracts and is found to have elevated levels of galactose in the blood. Treatment requires immediate dietary restriction of galactose-containing foods.
Mnemonic
GALACTOSEMIA = GALT (galactose-1-phosphate uridyltransferase) deficiency causes galactose accumulation