galactosemia

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Related to galactosemic: 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 ?
This finding raises the question of the efficacy of measuring galactitol in spot urine for monitoring metabolic control in DG galactosemics.
What remains to be explained for future research is (a) why patients with classic galactosemia have a higher galactitol-galactonate ratio than DG galactosemics and healthy individuals and (b) whether measuring the RBC concentrations of galactitol and galactonate along with Gal-1-P is clinically valuable for assessing the galactose burden in classic galactosemics.
This individual proved to be a variant Duarte galactosemic compound heterozygote, and was revealed later by DNA sequencing of the entire GALT gene to have a Q188R/ N314D genotype.
As shown in the analysis of 33 classical galactosemic samples, none showed any residual activity.
The reproducibility of the Gal-1-P assay with 75-500 [micro]L of red cells from a known galactosemic patient was similar at all of the volumes used, with a CV of 3.
3, it is apparent that the IAR varied greatly within the reference population, whereas the galactosemic population had tightly grouped IAR values approaching the IAR of pure gal-1-P, which can be seen in the product ion scan of gal-1-P (Fig.
Therefore, it seemed important to examine a possible age dependency of endogenous galactose production rates in galactosemic patients.
Parents of Galactosemic Children 20981 Solano Way Boca Raton, FL 33433 (407) 852-0266
DETERMINATION OF GALACTOSE CONTENT IN FOODS FOR THE BENEFIT OF GALACTOSEMICS.
Determination of Galactose Content in Floods for the Benefit of Galactosemics.