galactosemia

(redirected from Galt deficiency)
Also found in: Thesaurus, Medical, Encyclopedia.
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 ?
4 were from controls or patients with GALT deficiency, and in groups B1 and B2 from patients demonstrating reduced GALE activity in RBCs.
Increases in blood galactose (Gal) are also observed in other conditions, however: in the relatively rare galactokinase (GALK) deficiency, which can have serious sequelae; in partial GALT deficiency, which has no clinical consequences; and in UDP-galactose-4-epimerase (GALE) deficiency, which has 1 common benign form and 1 extremely rare untreatable form with severe clinical outcomes (2, 3).
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).