Disorders of fatty-acid oxidation digital illustration

Disorders of fatty-acid oxidation Save

ICD-10 code: E71.31

Chapter: Endocrine, nutritional and metabolic diseases

Disorders of Fatty-Acid Oxidation: Understanding the Basics

Fatty-acid oxidation is an essential metabolic process that helps the body convert stored fats into energy. However, when this process goes awry, it can lead to a range of disorders that affect the body's ability to produce energy efficiently.

  1. What are disorders of fatty-acid oxidation?
  2. Disorders of fatty-acid oxidation are a group of metabolic disorders that affect the body's ability to break down fatty acids for energy. These disorders can be caused by genetic mutations that affect the enzymes responsible for fatty-acid oxidation.

  3. Types of fatty-acid oxidation disorders
  4. There are several types of fatty-acid oxidation disorders, including:

    • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
    • Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
    • Carnitine palmitoyltransferase I and II deficiencies (CPT I and CPT II)
  5. Symptoms of fatty-acid oxidation disorders
  6. The symptoms of fatty-acid oxidation disorders can vary depending on the type and severity of the disorder. Some common symptoms include:

    • Low blood sugar
    • Fatigue
    • Muscle weakness
    • Nausea and vomiting
    • Seizures
    • Coma
  7. Treatment options for fatty-acid oxidation disorders
  8. There is currently no cure for fatty-acid oxidation disorders, but treatment can help manage symptoms and prevent complications. Treatment options may include:

    • Dietary changes to limit the intake of long-chain fatty acids
    • Supplementation with medium-chain triglycerides (MCTs)
    • Medications to control seizures or other symptoms
    • Regular monitoring of blood sugar and other metabolic markers

If you suspect that you or a loved one may have a fatty-acid oxidation disorder, it's important to speak with a healthcare professional for diagnosis and treatment. With proper management, individuals with these disorders can lead healthy, fulfilling lives.