Definition of Galactosemia

1. Noun. A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth.

Generic synonyms: Inborn Error Of Metabolism



Definition of Galactosemia

1. Noun. (medicine) A genetic metabolic disorder characterized by an inability to metabolize galactose properly ¹

¹ Source: wiktionary.com

Definition of Galactosemia

1. [n -S]

Medical Definition of Galactosemia

1. 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)

Galactosemia Pictures

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Lexicographical Neighbors of Galactosemia

galactose-1-phosphate
galactose-1-phosphate uridylyltransferase
galactose-6-phosphate dehydrogenase
galactose-6-phosphate isomerase
galactose-6-sulfatase
galactose-6-sulfurase
galactose-diphosphoglycosyl carrier lipid synthetase
galactose 3-O-sulfotransferase
galactose binding protein
galactose cataract
galactose dehydrogenases
galactose diabetes
galactose oxidase
galactose permease
galactose tolerance test
galactosemia (current term)
galactosemias
galactosemic
galactosemics
galactosephosphates
galactoses
galactosialidosis
galactosidase
galactosidases
galactoside
galactoside 2-fucosyltransferase
galactoside 3-fucosyltransferase
galactosides
galactosis
galactosphingolipid

Literary usage of Galactosemia

Below you will find example usage of this term as found in modern and/or classical literature:

1. Healthy People 2000: National Health Promotion & Disease Prevention by DIANE Publishing Company (2004)
"... For sickle cell anemia, with 20 States reporting, approximately 33 percent of live births screened (57 percent of black infants); for galactosemia, ..."

2. A Lifelong Passion: Nicholas and Alexandra: Their Own Story by Andrei Maylunas (2005)
"Compared with the latter group, women who were Duarte or galactosemia carriers were 13.7 times more likely to have a menopause before age 48 (with 95% ..."

3. Healthy People 2000 by DIANE Publishing Company (1995)
"... with 20 States reporting, approximately 33 percent of live births screened (57 percent of black infants); for galactosemia, with 38 States reporting, ..."

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