Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Dihydrolipoamide dehydrogenase deficiency


Other Names for this Disease
  • DLD deficiency
  • E3 deficiency
  • E3-deficient maple syrup urine disease
  • Maple syrup urine disease, type III
  • Pyruvate dehydrogenase E3 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

How might dihydrolipoamide dehydrogenase deficiency be treated?

There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathways vary depending on the specific mutation(s) each affected person has.

Unfortunately, the treatments that have been attempted in children with the early-onset neurologic form do not appear to significantly alter the course of the disease. Even with treatment, children often do not survive infancy or have varying degrees of chronic neurologic impairment if they survive the initial episode. Depending on individual enzyme complex deficiencies, treatment may involve certain dietary restrictions or certain diets; use of medical foods; and/or supplementation of specific amino acids or other substances.

There is limited data for the chronic management of people with the primarily hepatic (liver-related) form of the disease. Management typically involves supportive therapy during times of acute liver injury or failure, and may include nutritional support; IV glucose for hypoglycemia; correction of metabolic acidosis; correction of coagulopathy; and avoidance of liver-toxic medications.[1]

More detailed information about the management of DLD deficiency can be viewed on the GeneReviews Web site. GeneReviews is intended for use by genetics professionals. Those not familiar with the principles discussed on the GeneReviews Web site are encouraged to speak with a genetics professional or other healthcare provider regarding information of interest.
Last updated: 8/27/2015

References
  1. Shane C Quinonez and Jess G Thoene. Dihydrolipoamide Dehydrogenase Deficiency. GeneReviews. July 17, 2014; http://www.ncbi.nlm.nih.gov/books/NBK220444/.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
Other Names for this Disease
  • DLD deficiency
  • E3 deficiency
  • E3-deficient maple syrup urine disease
  • Maple syrup urine disease, type III
  • Pyruvate dehydrogenase E3 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.