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ETHE1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ETHE1 gene

The ETHE1 gene provides instructions for an enzyme that breaks down toxic levels of sulfide in the mitochondria, preventing cellular damage.

Normal Function

The ETHE1 gene provides instructions for making an enzyme that is active in mitochondria, which are the energy-producing centers in cells. The ETHE1 enzyme is part of a pathway that breaks down a molecule called sulfide (H2S) in mitochondria. Sulfide is produced in the body's tissues as part of normal cell processes, and it is also released by bacteria living in the gastrointestinal system (gut).

At low levels, sulfide is critical for normal cell functioning. However, this molecule becomes toxic at high levels, interfering with numerous cell activities. For example, excess sulfide interferes with mitochondrial energy production by blocking (inhibiting) an enzyme complex called cytochrome C oxidase (COX). This complex normally carries out one of the final steps in the process of energy production in mitochondria.

Health Conditions Related to Genetic Changes

Ethylmalonic encephalopathy

More than 30 mutations in the ETHE1 gene have been identified in people with ethylmalonic encephalopathy. This rare condition affects many parts of the body, including the nervous system, blood vessels, and intestines. Signs and symptoms include:

  • Delayed development
  • Abnormal movements
  • Rashes of tiny red spots under the skin (petechiae)
  • Blue discoloration of the hands and feet (acrocyanosis)
  • Chronic diarrhea

Most of the mutations that cause ethylmalonic encephalopathy lead to the production of nonfunctional versions of the ETHE1 enzyme or prevent cells from making any of this enzyme. A shortage of functional enzyme prevents sulfide from being broken down normally, allowing this molecule to accumulate in cells. The buildup of sulfide inhibits the activity of COX, which disrupts mitochondrial energy production and damages tissues and organs throughout the body.

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome.

Other Names for This Gene

  • ETHE1_HUMAN
  • ethylmalonic encephalopathy 1
  • Ethylmalonic encephalopathy protein 1
  • hepatoma subtracted clone one
  • HSCO
  • YF13H12

Genomic Location

The ETHE1 gene is found on chromosome 19.

Frequently Asked Questions

Yes. Because ethylmalonic encephalopathy is inherited in an autosomal recessive pattern, each parent is typically a carrier. Genetic counseling followed by targeted sequencing of the ETHE1 gene can identify carriers, allowing informed family planning and early screening of future children.===
The diagnosis is made by a combination of a metabolic screen showing elevated ethylmalonic acid in urine, a blood test revealing high plasma sulfide levels, and a definitive genetic test that identifies pathogenic variants in both copies of the ETHE1 gene. A referral to a metabolic genetics clinic is usually required.
Infants may show delayed motor milestones, unusual movements such as tremors or jerky motions, persistent red spots under the skin (petechiae), a bluish tint to the hands or feet (acrocyanosis), and chronic diarrhea that does not improve with standard dietary changes. If these symptoms appear, a pediatrician should consider further metabolic evaluation.
Current management focuses on lowering sulfide production and enhancing its clearance. This includes a low‑sulfur diet, antibiotics such as metronidazole to reduce gut bacteria that produce sulfide, and N‑acetylcysteine to boost antioxidant defenses. In some cases, a liver transplant may be considered if severe organ damage has occurred.
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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