MCAD Deficiency

Definition

MCAD deficiency is a metabolic disorder characterized by a defect in medium-chain fatty acid oxidation, resulting in hypoketotic hypoglycemia.

Symptoms

  • Hypoketotic hypoglycemia
  • Lethargy
  • Vomiting
  • Liver failure

Reasons

ACADM gene mutation.

Diagnosis

Newborn screening, genetic testing.

Treatment

Frequent meals, avoiding hunger.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of hypoglycemia, emergency services should be consulted.

This page is for general information purposes only.