Additional Resources

Section

NORD rare disease drug development ad.

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

pyruvate dehydrogenase E3-binding protein deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.

Synonyms

  • 2-oxoglutarate complex deficiency
  • Glycine cleavage system L protein deficiency
  • PDHXD
  • branched chain alpha-ketoacid dehydrogenase complex deficiency
  • diaphorase deficiency
  • dihydrolipoyl dehydrogenase deficiency
  • lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex
  • lacticacidemia due to PDX1 deficiency
  • lipoamide dehydrogenase deficiency
  • pyruvate dehydrogenase E3-binding PROTEIN deficiency
  • pyruvate dehydrogenase E3-binding protein deficiency
  • pyruvate dehydrogenase complex component E3 deficiency
  • pyruvate dehydrogenase protein X component deficiency
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
Sign Up for NORD News