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

ETFA gene

The ETFA gene provides instructions for making the alpha subunit of an enzyme required for breaking down fats and proteins to produce energy.

Normal Function

The ETFA gene provides instructions for making one part (the alpha subunit) of an enzyme called electron transfer flavoprotein. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein 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 ETFA gene prevent the production of the electron transfer flavoprotein enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the 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 alpha subunit
  • electron transfer flavoprotein alpha-subunit
  • Electron transfer flavoprotein, alpha polypeptide
  • electron-transfer-flavoprotein, alpha polypeptide
  • electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
  • electron-transferring-flavoprotein, alpha polypeptide (glutaric aciduria II)
  • EMA
  • ETFA_HUMAN
  • GA2
  • MADD

Frequently Asked Questions

Common triggers include prolonged fasting, high‑fat or high‑protein diets, infections, and certain medications (e.g., valproic acid). Avoiding extended periods without food and monitoring for fever or infection can reduce the risk of an acute crisis.
ETFA mutations impair the electron transfer flavoprotein’s alpha subunit, disrupting the oxidation of fatty acids and amino acids. During stress—such as illness, fasting, or surgery—the body relies more on these pathways, leading to a buildup of toxic metabolites that cause muscle weakness, hypoglycemia, and organ dysfunction.
Routine blood tests to check for metabolic markers (e.g., acylcarnitine profile) every 3–6 months, regular growth and developmental assessments, and periodic cardiac evaluations are advised. Patients should also keep a symptom diary to catch early signs of decompensation.
Many newborn screening programs include a metabolic panel that can detect elevated acylcarnitines suggestive of ETFA deficiency. A positive screen leads to confirmatory genetic testing, early dietary intervention, and referral to a metabolic specialist to initiate treatment before symptoms develop.===
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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