galactosaemia

ga·lac·to·se·mi·a

(gă-lak'tō-sē'mē-ă) An inborn error of galactose metabolism due to congenital deficiency of the enzyme galactosyl-1-phosphate uridyltransferase, resulting in tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria, which regress or disappear if galactose is removed from the diet.
Synonym(s): galactosaemia. [galactose + G. haima, blood]

galactosaemia

A genetic disorder due to the absence of an enzyme necessary for the breakdown of milk sugar (galactose) to glucose. The accumulating galactose may cause diarrhoea, vomiting, cataracts, mental retardation, liver damage with jaundice and malnutrition. Infants fed on a galactose-free diet can grow up entirely normal.

galactosaemia

a rare INBORN ERROR OF METABOLISM in which the breast-fed human infant is literally poisoned by the mother's milk. The affected individuals are unable to metabolize the milk sugar GALACTOSE, which normally is converted to glucose ready for oxidation and the release of energy Instead, affected infants store the galactose in various tissues including the brain, resulting in severe malnutrition along with mental retardation.

Galactosaemia is due to blockage of the step galactose-1-phosphate to glucose-1-phosphate because the enzyme uridyltransferase is absent or inactive. The condition is controlled by an autosomal gene probably on chromosome 9, affected individuals being homozygous for the recessive alleles. The transferase enzyme can be detected in foetal cells from AMNIOCENTESIS before birth and, if newborn infants are given a special diet, development will be normal.

ga·lac·to·se·mi·a

(gă-lak'tō-sē'mē-ă) [MIM*230400] An inborn error of galactose metabolism due to congenital deficiency; of tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria.
Synonym(s): galactosaemia. [galactose + G. haima, blood]

单词	galactosaemia
释义	galactosaemia galactosaemia or galactosemia na genetic disorder which affects a person's ability to metabolize galactose, identifiable by the presence of galactose in the blood EncyclopediaSeegalactosemia galactosaemia ga·lac·to·se·mi·a (gă-lak'tō-sē'mē-ă) An inborn error of galactose metabolism due to congenital deficiency of the enzyme galactosyl-1-phosphate uridyltransferase, resulting in tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria, which regress or disappear if galactose is removed from the diet. Synonym(s): galactosaemia. [galactose + G. haima, blood] galactosaemia A genetic disorder due to the absence of an enzyme necessary for the breakdown of milk sugar (galactose) to glucose. The accumulating galactose may cause diarrhoea, vomiting, cataracts, mental retardation, liver damage with jaundice and malnutrition. Infants fed on a galactose-free diet can grow up entirely normal. galactosaemia a rare INBORN ERROR OF METABOLISM in which the breast-fed human infant is literally poisoned by the mother's milk. The affected individuals are unable to metabolize the milk sugar GALACTOSE, which normally is converted to glucose ready for oxidation and the release of energy Instead, affected infants store the galactose in various tissues including the brain, resulting in severe malnutrition along with mental retardation. Galactosaemia is due to blockage of the step galactose-1-phosphate to glucose-1-phosphate because the enzyme uridyltransferase is absent or inactive. The condition is controlled by an autosomal gene probably on chromosome 9, affected individuals being homozygous for the recessive alleles. The transferase enzyme can be detected in foetal cells from AMNIOCENTESIS before birth and, if newborn infants are given a special diet, development will be normal. ga·lac·to·se·mi·a (gă-lak'tō-sē'mē-ă) [MIM230400] An inborn error of galactose metabolism due to congenital deficiency; of tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria. Synonym(s): galactosaemia. [galactose* + G. haima, blood]
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galactosaemia

galactosaemia

galactosemia

galactosaemia

ga·lac·to·se·mi·a

galactosaemia

galactosaemia

ga·lac·to·se·mi·a