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Related laboratory results include increased galactose levels in blood (normal value in children is less than 20 mg/dl) and urine (must use galactose oxidase to avoid confusion with other reducing sugars). Galactose measurements in blood and urine must be interpreted carefully be-cause some children who consume large amounts of milk have elevated plasma galactose concentrations and galactosuria but aren’t galactosemic. Also, neonates excrete galactose in their urine for about a week after birth; premature infants, even longer.
Other test results include:
❑ liver biopsy: typical acinar formation
❑ liver enzymes (aspartate aminotransferase, alanine aminotransferase levels): elevated
❑ urinalysis: albumin in urine
❑ ophthalmoscopy: punctate lesions in the fetal lens nucleus (with treatment, cataracts regress)
❑ amniocentesis: prenatal diagnosis of galactosemia (recommended for heterozygous and homozygous parents).
Source: Professional Guide to Diseases (Eighth Edition), 2005
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