GALACTOSEMIA

Pronunciation (US):

(GB):

 Dictionary entry overview: What does galactosemia mean? 

• GALACTOSEMIA (noun)
  The noun GALACTOSEMIA has 1 sense:

1. a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

  Familiarity information: GALACTOSEMIA used as a noun is very rare.

 Dictionary entry details 

• GALACTOSEMIA (noun)

Sense 1

Meaning:

A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

Classified under:

Nouns denoting stable states of affairs

Hypernyms ("galactosemia" is a kind of...):

inborn error of metabolism (any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism)

 Context examples 

Some individuals suffer from the genetic condition galactosemia, in which they lack the enzymes to convert galactose to glucose.

(Feeder Pathways for Glycolysis, NCI Thesaurus/BIOCARTA)

Mutation of the kinase, the transferase or the epimerase can result in clinical deficiencies in galactose metabolism known as galactosemias.

(Leloir Pathway of Galactose Metabolism, NCI Thesaurus/BIOCARTA)

Galactosemias range in severity depending on the nature of the genetic change, and are usually treated through avoidance of galactose in the diet, primarily from lactose in dairy products.

(Leloir Pathway of Galactose Metabolism, NCI Thesaurus/BIOCARTA)