galactosemia

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Related to GALE deficiency: Galactosemia classic, Galactosemia type 1, Galactosemia type 3

galactosemia

(gəlăk'təsē`mēə), inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea. Galactose is accumulated principally in the liver of the newborn infant, where it may induce cirrhosis, and in the lens of the eye, where cataracts may develop. Low glucose levels cause sufficient hypoglycemia to affect the central nervous system with resulting mental retardation. These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet.

galactosemia

[gə‚lak·tō′sē·mē·ə]
(medicine)
A congenital metabolic disorder caused by an enzyme deficiency and marked by high blood levels of galactose.
References in periodicals archive ?
The 22 subjects suspected of having GALE deficiency had activities that ranged from 198 to 881 [micro]mol * [g.
For the African American NBs, GALE deficiency was diagnosed in 5 cases.
100 mmol/L ([greater than or equal to] 20 mg/dL), we were able to segregate these 186 cases into those with possible GALK deficiency (Gal-1-P <25%) and those with a possible GALE deficiency (Gal-1-P [greater than or equal to] 25%).