| AR | 1) Aortic Regurgitation = AI Echo¼Ò°ß &... |
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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) |
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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
| 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
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| 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
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| 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
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| 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
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| 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
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| galactosemia | a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent |
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