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 ?
GALACTOSEMIA FOUNDATION, FORMERLY PARENTS OF GALACTOSEMIC CHILDREN
Because soy-based formulas contain no lactose, they are recommended for infants with galactosemia.
In utero detection of conditions such as phenylketonuria, galactosemia, maple syrup urine disease, and severe combined immunodeficiency allows treatment to be immediately administered after birth, before the newborn manifests symptoms (66).
Some of them are Fructose Intolerance, Galactosemia, and Phenylketonuria (PKU), etc.
The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.
Serious pathologies that may cause prolonged jaundice include biliary atresia (pale clay-coloured stool), hypothyroidism, galactosemia, haemolysis (blood group mismatch with mother), urinary tract infection etc and these need to be ruled out.
metabolic abnormalities: galactosemia, glycogen storage disease, homocystinuria, Wilson's disease, hemochromatosis;
Early analysis should focus on excluding diagnoses of galactosemia, viral hepatitis, hypothyroidism, and choledochal cyst.
Harry was diagnosed with the rare genetic metabolic disorder galactosemia but he has recovered well.
Over the past several months, analyses of both the free and bound galactose in 20 various store-brand foods, cheeses, fruits, and vegetables have been conducted in order to provide a valuable reference for patients affected by galactosemia and their families who wish to obtain more information about the maintenance of their diets.
New born screening of all babies for congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, methyl malonic aciduria and maple syrup urine disease can be initiated.
With further search for cataracts and ascites, she was also diagnosed with galactosemia.

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