galactosemia

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ga·lac·to·se·mi·a

 (gə-lăk′tə-sē′mē-ə)
n.
An inherited metabolic disorder characterized by deficiency of an enzyme necessary for the metabolism of galactose, a sugar found in milk, milk products, many legumes, and organ meats. The disorder results in elevated levels of galactose in the blood and can lead to intellectual disability and eye and liver abnormalities.

ga·lac′to·se′mic adj.

ga•lac•to•se•mi•a

(gəˌlæk təˈsi mi ə)

n.
an inherited disorder characterized by the inability to metabolize galactose and necessitating a galactose-free diet.
[1930–35]
ga•lac`to•se′mic, adj.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.galactosemia - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Translations

ga·lac·to·se·mi·a

[MIM*230400]
n. galactosemia, ausencia congénita de la enzima necesaria para la conversión de galactosa a glucosa o sus derivados.

galactosemia

n galactosemia
References in periodicals archive ?
The galactosemias. In: Sarafoglou K, Hoffmann GF, Roth KS, eds.
Classic galactosemia, a defect of the metabolism of galactose, was one of the earliest defects of intermediary metabolism to be recognized in the mid 20th century (1,2).
Individuals who are compound heterozygotes for classic galactosemia and the Duarte variant have also been identified.
Most newborn-screening programs for galactosemia in the US monitor blood spot galactose concentrations with a fluorescence assay as a first-line screen and follow up with a fluorometric blood spot enzyme assay for GALT, known as the Beutler test (6).
After a pilot plan carried out between 1999 and 2000, the screening of the following diseases officially began in January of 2002: (1) Congenital Adrenal Hiperplasia (CAH), and (2) Galactosemias: Galactose-l-phosphate uridyl-transferase (GALT) Deficiency ("Classic" Galactosemia), and Galactokinase (GALK) Deficiency.
As for the CAH and Galactosemias, of recent introduction to the Program, the percentage of false positives has been relatively high.
The introduction of two diseases in January 2002, CAH and the galactosemias, plus the inclusion of another twelve diseases in June of this year, however, has demanded additional disks to be perforated from the DBS, which intensifies the requirement for a sample to qualify as satisfactory.
In the first phase of this study, we carried out an audit of all positive reports of galactosemias to categorize the laboratory results and then compare them with clinical outcomes.
Of the 19 confirmed GALT-deficient galactosemias, we identified 2 GALT mutations in 14 cases (11 homozygotes, 3 compound heterozygotes), and 1 mutation in 4 cases.
Of the 7 reported positives in 2007 and 2008, 3 were GALT-deficient galactosemias, 2 were GALE deficiencies, 1 was a D/G compound heterozygote variant, and 1 was lost to follow-up.