- a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent
Found on 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-phosphate which damages the liver, eye, brain and kidney.
Found on http://www.medterms.com/script/main/art.asp?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 accumulates in the blood and a variety of problems
Found on 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 enzymatic action into glucose...
Found on 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 on 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 nutritional failure, hepatosplenomegaly with cirrhosi
Found on http://www.medilexicon.com/medicaldictionary.php?t=35957
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 on 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 on http://www.infoplease.com/ce6/sci/A0820008.html
Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual`s ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German .
Found on http://en.wikipedia.org/wiki/Galactosemia
an inherited disorder in which the baby is unable to metabolize galactose, a milk sugar.
Found on http://nyp.org/health/pregnant-glossary.html
No exact match found