Galactose Epimerase Deficiency (GALE)

Galactose epimerase deficiency, also known as type III galactosemia, is an autosomal recessive disorder caused by pathogenic variants in the gene GALE. Most affected individuals begin to manifest symptoms in infancy, which can include difficulty in feeding, weight loss, hypotonia, jaundice, liver or kidney dysfunction, and cataracts. These symptoms may vary from mild to severe. To resolve or prevent acute symptoms, patients need to maintain a galactose and lactose-free diet. The life expectancy for this disorder is currently unknown.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):