noun
- Plural of galactosemia; a group of inherited metabolic disorders in which the body cannot properly process galactose, a simple sugar, leading to accumulation of galactose or its metabolites in the blood and tissues.
Usage: medical/scientific term; typically used in clinical and genetic contexts
Examples
- Newborn screening programs test for galactosemias to enable early intervention.
- There are three main types of galactosemias, each caused by different enzyme deficiencies.
- Untreated galactosemias can result in intellectual disability, cataracts, and liver damage.
- Infants diagnosed with galactosemias require a lactose-free diet immediately.
- Genetic counseling is recommended for families with a history of galactosemias.