galactose diabetes

ga·lac·to·se·mi·a

(gă-lak'tō-sē'mē-ă),

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.
See also: galactokinase deficiency.

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]

Farlex Partner Medical Dictionary © Farlex 2012

galactose diabetes

(1) Galactokinase deficiency (see there), OMIM:230200. 
(2) Galactosemia (see there), OMIM:230400.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.