galactosaemia
/ɡəˌlaktəˈsiːmɪə/(also galactosemia) Medicine
noun
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.