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pyruvate dehydrogenase E1-alpha 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.

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Disease Overview

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.

Synonyms

  • PDH deficiency
  • PDHAD
  • ataxia with lactic acidosis 1
  • ataxia, intermittent, with abnormal pyruvate metabolism
  • ataxia, intermittent, with pyruvate dehydrogenase deficiency
  • ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency
  • lactic acidemia, thiamine-responsive
  • pyruvate decarboxylase deficiency
  • pyruvate dehydrogenase Complex deficiency
  • pyruvate dehydrogenase E1-ALPHA deficiency
  • pyruvate dehydrogenase E1-alpha deficiency
  • pyruvate dehydrogenase complex E1 component subunit alpha deficiency
  • pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant
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).

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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.

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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.

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