galactosemia

(redirected from Classic Galactosemia)
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Related to Classic Galactosemia: Galactosaemia, Galt deficiency

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 ?
This group would be compared to an age- and sex-matched population of adults to demonstrate whether adults with DG have any increased incidence of the problems seen in classic galactosemia, such as learning or language disabilities, neurologic difficulties, ophthalmologic disease (such as cataracts), or ovarian dysfunction, compared with the group of unaffected adults.
showed that patients with classic galactosemia on a galactose-restricted diet had increased RBC concentrations of Gal-1-P, galactitol, and galactonate (10).
Because of the urgent need to initiate dietary treatment in patients with classic galactosemia and a lesser degree of urgency or perhaps no need for treatment in the case of the compound heterozygotes, it is veryimportant to be able to quicklyand accurately distinguish between the 2 groups.
A patient with classic galactosemia attributable to deficiency of galactose-1-phosphate uridyltransferase showed a normal apoC-III isofocusing profile before dietary treatment.