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Related to GALE deficiency: Galactosemia classic, Galactosemia type 1, Galactosemia type 3
  • 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 ?
Blood samples from 27 control subjects presumed to have normal GALE activity and 2 subjects previously indicated as having GALE deficiency were assayed by LC-MS/MS.
The GALE activity in 16 of the 22 subjects suspected of having GALE deficiency overlapped with that of healthy controls and GALT-deficient subjects (Fig.
Because this is such a rare disease, we had the opportunity to assess the activity of GALE in erythrocytes from only 2 patients with known GALE deficiency of the benign peripheral variety.
If the total Gal concentration is increased, a Gal-1-P value >25% suggests possible GALE deficiency, whereas a Gal-1-P value <25% suggests possible GALK deficiency.
665 mmol/L ([greater than or equal to] 30 mg/dL), values consistent with possible GALE deficiency, and 10 cases had an abnormally low Gal-1-P percentage ([less than or equal to] 25%).