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D2HGDH gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

D2HGDH gene

The D2HGDH gene provides instructions for an enzyme that processes D-2-hydroxyglutarate, and mutations in this gene are linked to D-2-hydroxyglutaric aciduria type I.

Overview

The D2HGDH gene provides instructions for making an enzyme called D-2-hydroxyglutarate dehydrogenase. This enzyme is found in mitochondria, the energy-producing centers within cells. It participates in reactions that produce energy by converting a compound called D-2-hydroxyglutarate to another compound called 2-ketoglutarate, which is further processed to generate energy.

Health Conditions Related to Genetic Changes

2-hydroxyglutaric aciduria

Researchers have identified more than 30 D2HGDH gene mutations that cause a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type I. This condition results in progressive damage to the brain beginning early in life.

Mutations in the D2HGDH gene impair the function of the D-2-hydroxyglutarate dehydrogenase enzyme or lead to the production of a nonfunctional version. Consequently, D-2-hydroxyglutarate is not broken down and builds up in cells. At high levels, this compound is toxic and can lead to cell death. Brain cells appear to be the most vulnerable to these toxic effects, which explains why the signs and symptoms of D-2-HGA type I primarily involve the brain.

Other Names for This Gene

  • 2-hydroxypentanedioic acid
  • D2HDH_HUMAN
  • D2HGD
  • FLJ42195
  • MGC25181

Frequently Asked Questions

Diagnosis usually begins with detecting elevated levels of D-2-hydroxyglutarate in urine, blood, or cerebrospinal fluid through metabolic screening. Brain imaging, such
Initial signs often appear in infancy or early childhood and can include developmental delay, seizures, poor muscle tone (hypotonia), and problems with movement or coordination. As the condition progresses, children may experience worsening neurological symptoms and intellectual disability.
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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