Pyruvate dehydrogenase deficiency

Common Name(s)

Pyruvate dehydrogenase deficiency, Pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. Prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the E1 alpha gene, and is inherited in an X-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. In addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyruvate dehydrogenase deficiency" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pyruvate dehydrogenase deficiency" returned 31 free, full-text research articles on human participants. First 3 results:

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
 

Author(s): Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin

Journal: J. Inherit. Metab. Dis.. 2017 Mar;40(2):237-245.

 

Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues.

Last Updated: 31 Dec 1969

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[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].
 

Author(s): Mo-Ling Wu, Li Liu, Xiao-Jian Mao, Min-Zhi Peng, Hong-Sheng Liu, Hui-Ying Sheng, Yan-Na Cai, Hui-Fen Mei, Chun Fan, Yong-Lan Huang, Xiu-Zhen Li, Jing Cheng

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Aug;17(8):775-9.

 

To study the molecular genetic mechanism and genetic diagnosis of pyruvate dehydrogenase complex deficiency (PHD), and to provide a basis for genetic counseling and prenatal genetic diagnosis of PHD.

Last Updated: 31 Dec 1969

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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
 

Author(s): Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

Journal:

 

Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo pathway have recently been described (i.e., LIAS, NFU1, BOLA3, IBA57), but no mutation was found so far in genes involved ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pyruvate dehydrogenase deficiency" returned 3 free, full-text review articles on human participants. First 3 results:

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
 

Author(s): Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole

Journal: Mol. Genet. Metab.. 2012 Jan;105(1):34-43.

 

Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural ...

Last Updated: 31 Dec 1969

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Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
 

Author(s): H H Dahl

Journal: Am. J. Hum. Genet.. 1995 Mar;56(3):553-7.

 

Last Updated: 31 Dec 1969

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Pyruvate dehydrogenase deficiency.
 

Author(s): G K Brown, L J Otero, M LeGris, R M Brown

Journal: J. Med. Genet.. 1994 Nov;31(11):875-9.

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
 

Status: Recruiting

Condition Summary: Pyruvate Dehydrogenase Complex Deficiency

 

Last Updated: 20 Oct 2017

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Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
 

Status: Recruiting

Condition Summary: Pyruvate Dehydrogenase Complex Deficiency Disease

 

Last Updated: 16 Feb 2017

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