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Galactosemia Primary Defect Deficiency in enzymes that help convert galactose into glucose. The body cannot use galactose directly. Screening Test Fluorescent assay for enzyme activity Typically followed by measurement of galactose if reduced activity is detected Etiology & Prevalence Genetic (autosomal recessive) Occurs in about 1 in 50,000 births If Untreated Jaundice, vomiting, lethargy, hepatosplenomegaly, cataracts and failure to thrive leading to liver failure, sepsis. Often fatal Therapy Galactose free diet for life with strict avoidance of lactose (milk sugar) and lactose containing foods. With Treatment Mortality avoided if detected in time; improved IQ if treated early but typically in the low end of normal; speech and learning disabilities are common; ovarian failure for most females. |
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Washington State Department of Health Last
Update :
11/20/2006 10:14 AM
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