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galactosemia

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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.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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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.
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.
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