galactosemia

Pronunciation: gă-lak′tō-sē′mē-ă

Definition:

1. An inborn error of galactose metabolism due to congenital deficiency of the enzyme galactosyl-1-phosphate uridylyltransferase, resulting in tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria that regress or disappear if galactose is removed from the diet; autosomal recessive inheritance; caused by mutation in the galactose 1-phosphate uridyltransferase gene (GALT) on 9p.
2. An inborn error in metabolism other than a deficiency in galactosyl-1-phosphate uridylyltransferase (see subentries below).

Synonym(s): galactose diabetes

[galactose + G. haima, blood]

See Also: galactokinase deficiency

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