galactosemia
Noun: A rare, inherited genetic disorder (autosomal recessive) where the body lacks a functional enzyme necessary to metabolize the sugar galactose. This deficiency causes toxic levels of galactose and its byproducts to accumulate in the body, typically leading to symptoms that develop shortly after birth.
The term is used as a medical noun to name the specific genetic condition. It is a non-count noun when referring to the condition in general, but can be used as a count noun when referring to individual cases. * Early diagnosis of galactosemia is crucial for preventing severe complications in newborns. * The infant was tested for several metabolic disorders, including galactosemia. * Both parents must be carriers for a child to have galactosemia.
- Classic galactosemia: This specifies the most common and severe form of the disorder, caused by a deficiency in the GALT enzyme.
- Infants with classic galactosemia must avoid all sources of lactose and galactose immediately.
- Galactosemia carrier: Refers to an individual who has one copy of the mutated gene and can pass it on to their children but does not have the disease themselves.
- Genetic counseling can determine if someone is a galactosemia carrier.
- Galactosemic (adjective): Pertaining to or affected by galactosemia.
- The galactosemic patient requires a strict dietary regimen.
- Galactose metabolism disorder: A more descriptive, general term.
- GALT deficiency: Refers specifically to the lack of the enzyme galactose-1-phosphate uridylyltransferase, which causes classic galactosemia.
This word has a single, specific meaning in medical genetics and does not have other common definitions or idiomatic uses. It is not used in phrasal verbs or idioms.
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a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
