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Pronunciation of galactosemia

Meaning of galactosemia in Hindi

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Meaning of GALACTOSEMIA in English
  1. a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
  2. 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.
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