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

PDHB gene

The PDHB gene provides instructions for a subunit of the pyruvate dehydrogenase complex, which is essential for converting food into cellular energy.

Normal Function

The PDHB gene provides instructions for making a protein called E1 beta. This protein is a subunit of the pyruvate dehydrogenase enzyme, which is a key component of the pyruvate dehydrogenase complex.

This complex is responsible for converting pyruvate—a molecule derived from the breakdown of carbohydrates—into acetyl-CoA. This conversion is a critical step in the chemical reactions that produce adenosine triphosphate (ATP), the primary energy source for cells.

Health Conditions Related to Genetic Changes

Pyruvate dehydrogenase deficiency

Mutations in the PDHB gene are a rare cause of pyruvate dehydrogenase deficiency. This condition is characterized by delayed development, neurological problems, and a potentially life-threatening buildup of lactic acid (lactic acidosis).

  • Mechanism: Mutations result in an abnormal E1 beta protein that cannot properly interact with the E1 alpha subunit or other necessary factors.
  • Impact: A decrease in functional E1 beta reduces the activity of the pyruvate dehydrogenase complex. Consequently, pyruvate is diverted to produce lactic acid instead of energy.
  • Neurological Effects: Because the brain is highly dependent on the energy produced by this complex, the resulting reduction in cellular energy leads to severe neurological impairment.

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome.

Other Names for This Gene

  • ODPB_HUMAN
  • PDHBD
  • PDHE1-B
  • PDHE1B
  • PHE1B
  • pyruvate dehydrogenase (lipoamide) beta
  • pyruvate dehydrogenase E1 component subunit beta, mitochondrial
  • pyruvate dehydrogenase, E1 beta polypeptide

Frequently Asked Questions

Yes. PDHB mutations are inherited in an autosomal recessive pattern, meaning both parents must carry a variant for a child to be at risk. Genetic counseling can explain carrier status, recurrence risk, and options such as pre‑implantation genetic diagnosis or prenatal testing to detect affected embryos or fetuses early.
Newborns with a PDHB mutation often show poor feeding, lethargy, and failure to thrive within the first weeks of life. They may also develop seizures or a persistent high blood lactate level that does not improve with standard care. Early detection is critical because prompt treatment can slow neurological decline.
low‑carbohydrate, high‑fat diet (often ketogenic) limits the amount of pyruvate that must be processed by the deficient enzyme. Supplementing with thiamine (vitamin B1) can sometimes improve enzyme function, and adding L‑lactate‑scavenging agents like dichloroacetate may be considered under specialist supervision. Regular monitoring of blood lactate and growth parameters guides adjustments.
The diagnosis usually starts with a blood lactate test showing elevated levels. Next, a genetic panel for metabolic disorders or a targeted PDHB sequencing is performed. In some cases, a muscle biopsy may be done to measure pyruvate dehydrogenase activity directly. The combination of a high lactate/pyruvate ratio and a pathogenic PDHB variant confirms the diagnosis.
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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