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

ETFDH gene

The ETFDH gene provides instructions for making an enzyme essential for breaking down fats and proteins to produce energy within the body's cells.

Normal Function

The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein dehydrogenase is involved in the process by which fats and proteins are broken down to produce energy.

Health Conditions Related to Genetic Changes

Glutaric acidemia type II

Some mutations in the ETFDH gene prevent the production of the electron transfer flavoprotein dehydrogenase enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

Other Names for This Gene

  • electron transfer flavoprotein ubiquinone oxidoreductase
  • electron transfer flavoprotein-Q oxidoreductases
  • electron-transferring-flavoprotein dehydrogenase
  • ETF dehydrogenase
  • ETF-ubiquinone oxidoreductase
  • ETFD_HUMAN
  • ETFQO

Genomic Location

The ETFDH gene is found on chromosome 4.

Frequently Asked Questions

Gene therapy for ETFDH deficiency is still experimental and not yet available in routine clinical practice. Current research focuses on viral vector delivery of functional ETFDH cDNA and CRISPR‑based gene editing in cell and animal models. Until these approaches are proven safe and effective in humans, management relies on dietary control, supplements (e.g., riboflavin, carnitine), and supportive care during metabolic stress. Clinicians should stay informed about clinical trials that may become available for eligible patients.
Patients and caregivers should look for unexplained fatigue, muscle weakness, poor feeding or weight gain in infants, episodes of vomiting, abdominal pain, and sudden worsening of symptoms during illness or fasting. In older children and adults, symptoms may include muscle cramps, difficulty walking, or episodes of metabolic acidosis that can present as rapid breathing or confusion. Early recognition of these signs can prompt timely medical evaluation and prevent severe metabolic crises.
Confirmation typically involves a combination of biochemical screening and genetic testing. Blood or urine samples are first analyzed for elevated levels of specific organic acids (such as glutaric acid, ethylmalonic acid, or 2-methylbutyric acid). If abnormal metabolites are detected, a DNA test—usually next‑generation sequencing or a targeted ETFDH gene panel—is performed to identify pathogenic variants. Some laboratories also use functional assays to assess enzyme activity in cultured fibroblasts.
low‑fat, high‑protein diet is often recommended, with careful monitoring of protein intake to avoid excess nitrogenous waste. Medium‑chain triglyceride (MCT) supplements can provide an alternative energy source that bypasses the defective pathway. Patients should avoid prolonged fasting, and during illness or surgery, a glucose infusion may be necessary to maintain adequate energy. Regular monitoring of metabolic panels and adjusting diet under a metabolic specialist’s guidance 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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