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Pyruvate Dehydrogenase Complex Deficiency Disease

An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Also Known As:
Ataxia with Lactic Acidosis; Ataxia with Lactic Acidosis I; Ataxia, Intermittent, with Abnormal Pyruvate Metabolism; Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency; Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency; Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease; Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease; PDH Deficiency; PDHC Deficiency; PDHC Deficiency Disease; Pyruvate Decarboxylase Deficiency; Pyruvate Dehydrogenase Complex Deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile; Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal; Pyruvate Dehydrogenase Deficiency; Type I Ataxia with Lactic Acidosis; Deficiency, PDH; Deficiency, PDHC; Deficiency, Pyruvate Decarboxylase; Deficiency, Pyruvate Dehydrogenase; Ataxia with Lactic Acidosis, Type I; Lactic Acidosis with Ataxia, Type I
Networked: 236 relevant articles (8 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Infantile Spasms (West Syndrome)
2. Lactic Acidosis
3. Leigh Disease (Leigh's Disease)
4. Mitochondrial Diseases (Mitochondrial Disease)
5. Disease Progression

Experts

1. Patel, Mulchand S: 5 articles (01/2019 - 04/2007)
2. Stacpoole, Peter W: 5 articles (04/2018 - 05/2006)
3. Brown, Garry K: 5 articles (01/2015 - 02/2002)
4. Marsac, Cécile: 5 articles (02/2010 - 05/2003)
5. Robinson, B H: 5 articles (02/2008 - 01/2000)
6. Brown, Ruth M: 4 articles (01/2015 - 02/2002)
7. Sedel, F: 4 articles (02/2013 - 10/2007)
8. Brivet, Michèle: 4 articles (02/2010 - 04/2006)
9. Brown, G K: 4 articles (03/2008 - 01/2000)
10. Brown, R M: 4 articles (03/2008 - 01/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pyruvate Dehydrogenase Complex Deficiency Disease:
1. Thiamine (Aneurin)FDA Link
2. Protons (Proton)IBA
3. Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
4. Carnitine (L-Carnitine)FDA LinkGeneric
5. CarbohydratesIBA
6. VigabatrinFDA Link
7. Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
8. Pyruvic Acid (Pyruvate)IBA
9. Oxidoreductases (Dehydrogenase)IBA
10. Proteins (Proteins, Gene)FDA Link

Therapies and Procedures

1. Ketogenic Diet
2. Therapeutics
3. Anesthesia
4. Protein-Restricted Diet (Diet, Protein Restricted)
5. Tracheostomy