Epimerase deficiency

Epimerase deficiency is a rare metabolic disorder characterized by the body's inability to properly convert galactose to glucose. This condition is caused by a deficiency in the enzyme UDP-galactose 4'-epimerase, which plays a crucial role in the Leloir pathway, the primary pathway for galactose metabolism.

Symptoms

The symptoms of epimerase deficiency can vary widely among affected individuals. Some may experience no symptoms, while others may have severe complications. Common symptoms include failure to thrive, jaundice, liver disease, cataracts, and intellectual disability.

Causes

Epimerase deficiency is caused by mutations in the Gale gene, which provides instructions for making the enzyme UDP-galactose 4'-epimerase. This enzyme is necessary for the final steps of the Leloir pathway, which converts galactose to glucose.

Diagnosis

Diagnosis of epimerase deficiency typically involves genetic testing to identify mutations in the Gale gene. Other diagnostic tests may include blood tests to measure the levels of galactose and its derivatives in the body, and liver function tests to assess the health of the liver.

Treatment

There is currently no cure for epimerase deficiency. Treatment is focused on managing symptoms and preventing complications. This may involve a galactose-free diet, medications to manage symptoms, and regular monitoring of liver function.

Prognosis

The prognosis for individuals with epimerase deficiency varies depending on the severity of the condition. Those with mild or no symptoms can lead normal lives with appropriate management. However, those with severe symptoms may experience significant health problems and require ongoing medical care.

See also

• Galactosemia
• Metabolic disorder
• Leloir pathway

NIH genetic and rare disease info

• NIH info on Epimerase deficiency

Epimerase deficiency is a rare disease.