VLCAD Lack

Definition

VLCAD deficiency is a metabolic disease characterized by a very long chain fatty acid oxidation defect, accompanied by cardiomyopathy and hypoketotic hypoglycemia.

Symptoms

  • Hypoketotic hypoglycemia
  • Cardiomyopathy
  • Rhabdomyolysis
  • Hepatomegaly

Reasons

ACADVL gene mutation.

Diagnosis

Newborn screening, genetic testing.

Treatment

Dietary modification, MCT oil.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of cardiac arrest, emergency services should be consulted.

This page is for general information purposes only.