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

HADH gene

The HADH gene encodes an enzyme vital for breaking down medium- and short-chain fatty acids to provide energy for the heart, muscles, and other tissues.

Overview

The HADH gene provides instructions for making the enzyme 3-hydroxyacyl-CoA dehydrogenase. This enzyme is a key player in fatty acid oxidation, the process of breaking down fats to generate energy. It specifically targets medium-chain and short-chain fatty acids, which are found in dietary fats or produced when larger fatty acids are metabolized.

Functioning within the mitochondria, this enzyme is essential for the health of the heart, liver, kidneys, muscles, and pancreas. It helps convert fatty acids into ketones, which serve as a primary energy source for the heart and muscles, especially during fasting or periods of high energy demand.

Health Conditions Related to Genetic Changes

3-hydroxyacyl-CoA dehydrogenase deficiency

Mutations in the HADH gene can lead to 3-hydroxyacyl-CoA dehydrogenase deficiency. These genetic changes alter the 3-dimensional shape of the enzyme, impairing its function. Consequences include:

  • Inability to properly metabolize medium- and short-chain fatty acids.
  • Lack of energy (lethargy) and low blood glucose (hypoglycemia).
  • Potential damage to the liver, heart, and muscles due to the accumulation of unprocessed fatty acids.

Other disorders

Mutations in the HADH gene have also been identified in individuals with familial hyperinsulinism. This condition is characterized by:

  • Abnormally high levels of insulin (hyperinsulinism).
  • Unusually low blood glucose (hypoglycemia).
  • Reduced enzyme activity in the pancreas, which researchers believe leads to excessive insulin secretion.

Frequently Asked Questions

HADH deficiency is inherited in an autosomal recessive manner, meaning both parents must carry a mutation for a child to be affected. Genetic counseling and targeted DNA testing can identify carriers. If a child is diagnosed, siblings can be tested for carrier status and parents can be offered carrier testing.
Infants may show poor feeding, lethargy, vomiting, and episodes of low blood sugar (hypoglycemia) especially after fasting or illness. They may also develop muscle weakness or a heart rhythm problem that can be detected on an ECG.
Because the body cannot efficiently break down medium‑ and short‑chain fatty acids, fasting can quickly lead to hypoglycemia. A diet high in complex carbohydrates and moderate in healthy fats, with frequent small meals, helps maintain blood glucose. In some cases, a medical dietitian may recommend a low‑fat, high‑carbohydrate diet or the use of medium‑chain triglyceride supplements under supervision.
Severe hypoglycemia (confusion, seizures, loss of consciousness), sudden heart rhythm disturbances, or signs of liver dysfunction (jaundice, abdominal pain) are medical emergencies. If any of these occur, seek emergency care promptly and inform the healthcare team of the HADH mutation.
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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