galactosemia

(redirected from GALE deficiency)
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Related to GALE deficiency: Galactosemia classic, Galactosemia type 1, Galactosemia type 3

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 ?
Patients with GALE deficiency do accumulate intracellular galactose 1-phosphate, and they may have hepatic and renal disease but typically not to the extent of that seen in GALT deficiency (4).
To validate the capability of our system, we analyzed 8 patients with confirmed galactosemia (4 with GALE deficiency, 3 with GALT deficiency, and 1 with GALK deficiency).