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|Container type||Dark Green top|
|Amount to Collect||1 mL blood|
|Sample type||Heparinized plasma|
|Preferred volume||0.5 mL plasma|
|Min. Volume||0.2 mL plasma|
|Processing notes||Aliquot plasma and freeze. Transport to CB frozen. Order Mayo test code GALP.|
|Normal range|| Age:
|Stability||Room temperature 20 days, refrigerated 20 days, frozen 1 year|
|Turn around times||8-15 days|
|Additional information||Galactosemia is an autosomal recessive disorder that results from a deficiency of 1 of the 3 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). GALT deficiency is the most common cause of galactosemia and is often referred to as classic galactosemia. The complete or near-complete deficiency of GALT enzyme is life-threatening if left untreated. Complications in the neonatal period include failure to thrive, liver failure, sepsis, and death; even with survival, long-term intellectual disability can result.
Galactosemia is treated by a galactose-restricted diet, which allows for rapid recovery from the acute symptoms and a generally good prognosis. Despite adequate treatment from an early age, individuals with galactosemia remain at increased risk for developmental delays, speech problems, and abnormalities of motor function. Females with galactosemia are at increased risk for premature ovarian failure. Based upon reports by newborn screening programs, the frequency of classic galactosemia in the United States is 1 in 30,000, although literature reports range from 1 in 10,000 to 1 in 60,000 live births.
|Last Updated||7/17/2013 11:01:34 AM|