BabelNet

bn:00037045n

Noun Concept

Categories: Inborn errors of carbohydrate metabolism, Galactose

galactosemia galactose intolerance UDP-galactose-4-epimerase deficiency classic galactosemia classical galactosemia

A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth WordNet 3.0

Definitions

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Sources

A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth WordNet 3.0 & Open English WordNet

Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Wikipedia

Carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues Wikidata

A genetic metabolic disorder characterized by an inability to metabolize galactose properly. Wiktionary

Genetic metabolic disorder characterized by an inability to metabolize galactose properly. Wiktionary (translation)

IS A

inborn error of metabolism

rare disease

Inborn errors of carbohydrate metabolism

HAS KIND

galactokinase deficiency

galactose epimerase deficiency

Galactose-1-phosphate uridylyltransferase deficiency

galactosemic cataract

GENETIC ASSOCIATION