galactosemia

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Related to Galt deficiency: Galactosaemia

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 ?
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.
The sensitivity for detecting GALT deficiency was 100% with the GALT cutoff of [less than or equal to] 40 [micro]mol/L; the positive predictive value with this cutoff was 83% (19 of 23 cases).
Although molecular diagnostic testing is available for GALT deficiency, >200 different mutations have been described so far, and an assay of enzyme function remains central to defining a mutation's importance (11).