Pyruvate Dehydrogenase Deficiency

Also known as: pyruvate dehydrogenase complex deficiency, PDCD, PDHC, PDH deficiency, and others.

What is pyruvate dehydrogenase deficiency?

Depending on the availability of food, the body either uses glucose produced by the breakdown of ingested carbohydrates, when food is plentiful, or fat when food is limited, to produce the energy cells need to function.

The pyruvate dehydrogenase complex of three enzymes is the bridge that gives the body the flexibility to switch from one source of energy to the other. PDC deficiency is a disorder resulting from a lack of one of the three enzymes.

What causes pyruvate dehydrogenase deficiency? 

Most children with PDCD have an abnormality of the PDHA1 gene located on the X chromosome that is from a change occurring during development (mutation) and is not inherited from parents. Others follow a autosomal recessive inheritance (1 in 4 children affected).

What are the symptoms of pyruvate dehydrogenase deficiency? 

The age of onset and severity depend on the level of activity of the PDC enzymes. Common symptoms for those that present at birth or in infancy include:

  • poor feeding
  • rapid breathing
  • progressive neurological symptoms
    • like poor muscle tone
    • delay in motor development
    • abnormal eye movements
    • poor eye tracking ability

Many do not survive to later childhood. Some children may develop symptoms later and develop normally with periods of difficulty walking (ataxia) often associated with upper respiratory tract infections, or have mental retardation and other neurological symptoms like seizures.

What are pyruvate dehydrogenase deficiency care options?

Specialized care from physicians that take care of metabolic, genetic and kidney abnormalities in children is required. Some children respond to treatment with thiamine, carnitine or lipoic acid, others to a ketogenic diet.

Dichloroacetate (and other drugs) may help treat the acidosis but may not improve neurological symptoms. Genetic counseling for parents is important.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: June 09, 2023 12:00 PM

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