DLD deficiency presents in early infancy with poor feeding, frequent episodes of vomiting, lethargy and developmental delay. As the disease progresses, affected individuals develop seizures, enlarged liver, blindness and ultimately suffer an early death. DLD deficiency is also known as Maple Syrup Urine disease – Type 3.

In the Ashkenazi Jewish population, approximately 1 in 96 people are carriers of a mutation in the DLD deficiency gene, which is located on the long arm of chromosome #7.

There is currently no treatment or cure available for DLD deficiency. Dietary intervention was reported to be helpful in one patient, but other interventions are controversial.