Abstract
Galactosemia is a family of inherited autosomal recessive disorders that result from impaired metabolism of galactose. Symptoms and outcome severity depend on which gene in the Leloir pathway of galactose metabolism is impacted and on the degree of enzyme loss. The most common potentially lethal form of galactosemia, called classic galactosemia, results from a profound loss of galactose-1-phosphate uridylyltransferase (GALT) activity. Early diagnosis, often by newborn screening, and intervention by dietary restriction of galactose may prevent or reverse the potentially lethal symptoms of classic galactosemia, although many patients go on to experience a constellation of apparently galactose-independent long-term complications. The underlying bases of pathophysiology in classic galactosemia remain unclear and are the subject of ongoing investigation.
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