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  • Galactosemia
    °¥¶ôÅ佺Ç÷Áõ(úìñø)
  • galactosemia
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  • metabolic defect of carbohydrate (galactosemia)
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  • Metabolic defect of carbohydrate (Galactosemia)
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galactosemia <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 result.
Inheritance: autosomal recessive.
Origin: Gr. Haima = blood
(27 Sep 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Galactosemias - »õâ A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
    Synonyms : Deficiency Disease, Galactokinase, Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase, Deficiency Disease, UDP-Galactose-4-Epimerase, Deficiency Disease, UDPglucose 4-Epimerase, Galactosemia, Classic, UDP-Galactose-4-Epimerase Deficiency Disease
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galactosemia a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
Ãâó: wordnet.princeton.edu/perl/webwn
galactosemia Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridylyltransferase). ...
Ãâó: en.wikipedia.org/wiki/Galactosemia
galactosemia A buildup of galactose in the blood. This is caused by lack of the enzymes needed to break down galactose into glucose.
Ãâó: www.gastromd.com/definitionsg.html
galactosemia Galactosemia is a disorder that affects how the body processes certain sugars (sugar metabolism). This condition results when the body is not able to process the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products. Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition if not treated.
Ãâó: goldbamboo.com/glossary-1g.html
galactosemia a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly.
Ãâó: www.theliverfoundationforkids.org/glossary.html
WordNet ÀÏ¹Ý ¿µ¿µ »çÀü °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
galactosemia a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent
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