A rare genetic disorder in which the body cannot properly metabolize galactose, a sugar found in milk, potentially causing serious health problems if untreated.
From 'galactose' (milk sugar) + '-emia' (presence in blood), describing the condition where galactose accumulates abnormally in the bloodstream.
Galactosemia is one reason newborn screening tests are done at birth—this condition was once devastating, but now affected babies are diagnosed within days and switched to special formula, preventing blindness and intellectual disability.
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