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Definition of galactosaemia in English:

galactosaemia

(also galactosemia)

Pronunciation /ɡəˌlaktəˈsiːmɪə/

noun

Medicine

  • The presence of galactose in the blood; an instance of this; an inherited (autosomal recessive) disorder characterized by this, caused by deficiency of an enzyme involved in galactose metabolism and resulting in cataracts, hepatomegaly, and mental retardation.

Origin

1930s; earliest use found in Biological Abstracts. From galactose + -aemia.