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]

galactose diabetes

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

单词	galactose diabetes
释义	DictionarySeegalactosemia 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] galactose diabetes (1) Galactokinase deficiency (see there), OMIM:230200. (2) Galactosemia (see there), OMIM:230400.
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