[n] - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent
Found op http://www.webdictionary.co.uk/definition.php?query=galactosemia
Galactosemia: A genetic metabolic disease in which there is a defect in the body's ability to use the sugar galactose. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose-1-phosphate uridyl transferase). This causes an accumulation of galactose 1-phosphat...
Found op http://www.medterms.com/script/main/art.html?articlekey=3535
Synonym for galactosaemia ... <biochemistry> A rare genetic (autosomal recessive) disorder characterised by the inability a defect in the enzyme (galactose 1 phosphate uridyl transferase) that converts galactose 1 phosphate into glucose 1 phosphate is absent. ... Excess galactose 1 phosphate a...
Found op http://www.mondofacto.com/facts/dictionary?galactosemia
(gә-lak″to-se´me-ә) a genetically determined biochemical disorder in which there is a lack of an enzyme necessary for proper metabolism of galactose. Normally the lactose in milk is initially broken down into its glucose and galactose components. The galactose is then changed by e...
Found op http://www.encyclo.co.uk/local/21001
a hereditary defect in the metabolism of the sugar galactose, which is a constituent of lactose, the main carbohydrate of milk. Infants with this ... [3 related articles]
Found op http://www.britannica.com/eb/a-z/g/3
Type: Term Pronunciation: gă-lak′tō-sē′mē-ă Definitions: 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 nut...
Found op http://www.medilexicon.com/medicaldictionary.php?t=35957
Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual`s ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance. Gala...
Found op http://en.wikipedia.org/wiki/Galactosemia
A rare inherited disorder in which the baby's body is not able to digest one of the sugars found in breast and cow's milk. Because the condition will lead to liver damage, cataracts, mental retardation and possible death, early diagnosis and treatment is critical.
Found op http://www.pregnology.com/AZ/G/1
galactosemia (gulăk"tusē'mēu) , inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea....
Found op http://www.infoplease.com/ce6/sci/A0820008.html
1) Inborn error of metabolism
Found op http://www.mijnwoordenboek.nl/EN/crossword-dictionary/galactosemia/1
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