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Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency: Introduction

Pyruvate dehydrogenase deficiency: An inherited carbohydrate metabolism disorder where a deficiency of pyruvate dehydrogenase results in metabolic acidosis and mental retardation as well as other neurological symptoms. The condition may be mild or severe. The condition is exacerbated by eating high carbohydrate meals and stress. More detailed information about the symptoms, causes, and treatments of Pyruvate dehydrogenase deficiency is available below.

Symptoms of Pyruvate dehydrogenase deficiency

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Pyruvate dehydrogenase deficiency: Related Patient Stories

Pyruvate dehydrogenase deficiency: Deaths

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Pyruvate dehydrogenase deficiency: Complications

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Causes of Pyruvate dehydrogenase deficiency

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Disease Topics Related To Pyruvate dehydrogenase deficiency

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Misdiagnosis and Pyruvate dehydrogenase deficiency

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Evidence Based Medicine Research for Pyruvate dehydrogenase deficiency

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Research about Pyruvate dehydrogenase deficiency

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Statistics for Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency: Broader Related Topics

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Definitions of Pyruvate dehydrogenase deficiency:

An inborn error of metabolism in which deficiency of pyruvate dehydrogenase complex is complicated by variable metabolic and neurological disorders. Neonatal lactic acidosis is usually associated with slow physical and mental development, microcephaly, dysgenesis and atrophic changes in the brain, cerebellar ataxia, seizures, and spasticity. Pyruvate dehydrogenase phosphatase (EC 3.1.3.43) deficiency has been found to occur in Leigh syndrome. - (Source - Diseases Database)

Pyruvate dehydrogenase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Pyruvate dehydrogenase deficiency, or a subtype of Pyruvate dehydrogenase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Pyruvate dehydrogenase deficiency as a "rare disease".
Source - Orphanet

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More information about Pyruvate dehydrogenase deficiency

  1. Pyruvate dehydrogenase deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Deaths
  7. Complications
 

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