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galactosemia

Pronunciation: ga-lak'to-se'me-a

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

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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