DLD-deficiency is a rare, potentially lethal inherited disorder. Severe metabolic, neurological and/or cardiological symptoms usually develop in early childhood. Less frequently the disorder presents itself only in adulthood in the form of liver failure.
Patients are usually descendants of healthy parents. In the Ashkenazi Jewish population, approximately 1 out of 35,000 to 48,000 is affected; frequency has not been determined for other ethnicities.
DLD