galactosemia

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Related to Galt deficiency: Galactosaemia

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 the disease is observed with the deficiency any of the three enzymes involved in the metabolism of galactose, GALT deficiency is observed most commonly.
We measured GALE activity in lymphoblasts with the HPLC method described earlier (3) for 30 cell lines, of which 2 were derived from healthy controls, 6 were derived from patients with GALT deficiency, and 22 were derived from patients who demonstrated diminished GALE activity in hemolysates.
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).