galactosemia

(redirected from Classic Galactosemia)
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Related to Classic Galactosemia: Galactosaemia, Galt deficiency

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 ?
Although it is a rare condition, babies who are suffering from a case of classic galactosemia (a medical condition where the baby is unable to digest breast milk because their body is unable to break down lactose and galactose) cannot be breastfed.
The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia.
The primary purpose of the screen has been to detect newborns with classic galactosemia before they rapidly become symptomatic (severe liver failure, coagulopathy, sepsis, and death).
People with galactosemia, either classic galactosemia or epimerase deficiency galactosemia, have genetic mutations that decrease their levels of the key enzymes (GALT and GALE) responsible for the metabolism of a common form of dietary sugar.
Classic galactosemia can cause speech and language deficits, ataxia, mental retardation, ovarian dysfunction, and liver or renal disease if not treated early, and therefore neonates with the disorder are put on life-long galactose-free diets.
These 13 children included nine with positive screening test results for congenital hypothyroidism, two with classic galactosemia (galactose-1-phosphate uridyl transferase deficiency), one with maple syrup urine disease (MSUD), and one with tyrosinuria.
Classic galactosemia presents with multiple problems affecting various organ systems.
N314D) and 1 classic galactosemia mutation of the GALT (galactose-1-phosphate uridylyltransferase) gene.