galactosemia

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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 ?
When NB screening includes Gal quantification, the vast majority of reported galactosemias in NBs are nonclassic, however, and these NBs rarely require urgent treatment.
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
4] Nonstandard abbreviations: NB, newborn; GALT, galactose-1-phosphate uridyltransferase; Gal, galactose; GALK, galactokinase; GALE, galactose-4-epimerase; D/G galactosemia, Duarte/classic galactosemia; Gal-1-P, galactose 1-phosphate; PA DOH, Pennsylvania Department of Health.
A GALT value [less than or equal to] 32 [micro]mol/L is typical in GALT-deficient galactosemia, whereas GALT activity values of 41-120 [micro]mol/L are common with clinically benign mutations.
Epimerase-deficiency galactosemia is not a binary condition.
Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.