galactosemia

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Related to Galactosaemia: galactosemia, Classic Galactosemia

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 UK National Screen Committee (NSC) - which advises ministers and the NHS in the four UK countries about all aspects of screening - currently does not recommend screening for galactosaemia among newborns.
Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.
Fruits and vegetables are a source of galactose: Implications in planning the diets of patients with galactosaemia. Journal of Inherited Metabolic Diseases, 14,253-258.
Screening for metabolic disorders can also be considered in newborns prior to adoption, including testing for galactosaemia and phenylketonuria.
Protective effect of l-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+-ATPase activities induced by the in vitro galactosaemia. Pharmacol.
Larson, "Nerve conduction and aldose reductase inhibition during 5 years of diabetes or galactosaemia in dogs," Diabetologia, vol.
Genetic population studies have shown, for example, that high carrier frequencies of single mutations in the South African black population are responsible for most cases of glutaric aciduria type 1 (GA1), galactosaemia and cystinosis.
The Dollie Mixtures Charity Burlesque group was formed earlier this year and put on a show for Velindre Cancer Appeal, raising pounds 1,600, The group has since raised cash for Ty Hafan and the Galactosaemia Support group.
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia, J Inherit Metab Dis 1998;21:341-50.
These indications include infants with galactosaemia and hereditary lactase deficiency (rare) and in situations in which a vegetarian diet is preferred.