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Related to Galt deficiency: Galactosaemia
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  • noun

Words related to galactosemia

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent

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.
The diagnosis of GALT deficiency became even more complex when the mild Duarte GALT variant was identified.
Severe GALT deficiency, the most frequent form among the 3, results in classical galactosemia (OMIM 230400), which is characterized by jaundice, liver disease, anemia, encephalopathy, and cataracts.
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).