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PDHX gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDHX gene

The PDHX gene provides instructions for creating the E3 binding protein, a critical component of the pyruvate dehydrogenase complex that helps convert food into cellular energy.

Normal Function

The PDHX gene provides instructions for making a protein called E3 binding protein, which is part of a large group of proteins known as the pyruvate dehydrogenase complex. This complex is made up of several enzymes, including one called E3, and other proteins. E3 binding protein attaches E3 to the complex and provides the correct structure for the complex to perform its function.

The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This enzyme converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.

Health Conditions Related to Genetic Changes

Pyruvate dehydrogenase deficiency

Mutations in the PDHX gene cause pyruvate dehydrogenase deficiency in a small number of people. This condition is characterized by a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems.

PDHX gene mutations associated with this deficiency result in the complete absence of E3 binding protein. Loss of this protein impairs the binding of the E3 enzyme to the pyruvate dehydrogenase complex, leading to a reduction of the complex's activity. With decreased function, pyruvate builds up and is converted to lactic acid, causing lactic acidosis. In addition, the production of cellular energy is diminished. The brain, which is especially dependent on this form of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome.

Other Names for This Gene

  • dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
  • DLDBP
  • E3BP
  • lipoyl-containing pyruvate dehydrogenase complex component X
  • ODPX_HUMAN
  • OPDX
  • proX
  • pyruvate dehydrogenase complex, component X
  • pyruvate dehydrogenase complex, E3-binding protein subunit
  • pyruvate dehydrogenase complex, lipoyl-containing component X
  • pyruvate dehydrogenase protein X component, mitochondrial

Frequently Asked Questions

definitive diagnosis requires a combination of biochemical and genetic testing. Blood lactate and pyruvate levels are measured to detect an elevated lactate/pyruvate ratio, indicating impaired pyruvate dehydrogenase activity. A muscle biopsy can be performed to assess enzyme activity directly, and a DNA test (next‑generation sequencing or targeted Sanger sequencing) of the PDHX gene confirms the specific mutation.
Infants may present with poor feeding, lethargy, vomiting, and failure to thrive. A hallmark is a sudden rise in blood lactate (lactic acidosis) that can cause seizures, developmental delay, and, if untreated, can lead to multi‑organ failure. Early neuroimaging may show brain lesions or white‑matter changes.
PDHX mutations are inherited in an autosomal recessive pattern. Both parents are typically carriers, each passing a defective allele with a 25 % chance of having an affected child. Carrier testing and prenatal genetic diagnosis (amniocentesis or chorionic villus sampling) can inform family planning decisions. Genetic counseling is recommended for families with a known mutation.
Management focuses on reducing lactate production and supporting energy metabolism. A low‑carbohydrate, high‑fat ketogenic diet limits pyruvate formation. Thiamine (vitamin B1) and other cofactors (riboflavin, lipoic acid) are often supplemented. In severe cases, liver or combined liver‑kidney transplantation may be considered to restore pyruvate dehydrogenase activity. Regular monitoring of lactate levels and developmental milestones is essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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