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

DLAT gene

The DLAT gene provides instructions for the E2 enzyme, a core component of the pyruvate dehydrogenase complex that is vital for converting food into cellular energy.

Normal Function

The DLAT gene provides instructions for making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is part of a large group of proteins called the pyruvate dehydrogenase complex. This complex comprises multiple copies of three enzymes, including E2, and several related proteins. The E2 enzyme serves as the core to which the other proteins attach to form the complex.

The pyruvate dehydrogenase complex plays an important role in the pathways that convert energy from food into a form cells can use. It converts pyruvate, formed from the breakdown of carbohydrates, into acetyl-CoA. The E2 enzyme performs one part of this chemical reaction, which is essential to begin the series of reactions that produces adenosine triphosphate (ATP), the cell's main energy source.

Health Conditions Related to Genetic Changes

Pyruvate dehydrogenase deficiency

Mutation of the DLAT gene is a very rare cause of pyruvate dehydrogenase deficiency. This condition is characterized by:

  • A potentially life-threatening buildup of lactic acid in the body (lactic acidosis)
  • Delayed development
  • Neurological problems

Mutations in the DLAT gene lead to an abnormal E2 enzyme and reduced activity of the pyruvate dehydrogenase complex. With decreased activity, pyruvate builds up and is converted to lactic acid, while cellular energy production is diminished. The brain, which is especially dependent on this form of energy, is severely affected, resulting in the neurological problems associated with the deficiency.

Leigh syndrome

The DLAT gene is also associated with Leigh syndrome, a rare inherited neurometabolic disorder.

Frequently Asked Questions

DLAT-related pyruvate dehydrogenase deficiency is inherited in an autosomal recessive pattern, meaning a child must inherit two mutated copies of the gene, one from each parent. Parents are typically healthy carriers. If a couple has one affected child, there is a 25 percent chance with each subsequent pregnancy that the child will be affected, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will not carry the mutation. Genetic counseling and prenatal or preimplantation genetic testing are available for at-risk families.
Management focuses on reducing the body's reliance on the defective pyruvate dehydrogenase complex. This often includes a diet low in carbohydrates and high in fats and proteins, which forces the body to use alternative energy pathways. In some cases, high-dose thiamine (vitamin B1) is administered to see if it can partially restore enzyme activity, though this is not effective for all genetic variants. Regular monitoring of lactic acid levels is essential to prevent dangerous acidosis.
Diagnosis usually begins with newborn screening or clinical evaluation if an infant shows signs of poor feeding, lethargy, or abnormal breathing patterns. Confirmatory testing involves measuring elevated levels of lactic acid and pyruvate in the blood or cerebrospinal fluid. Genetic testing is then performed to identify specific mutations in the DLAT gene, which distinguishes this rare cause from more common forms of the deficiency caused by other genes.
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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