Adrenoleukodystrophy

Definition

Adrenoleukodystrophy is an X-linked recessive metabolic disease characterized by adrenal insufficiency and progressive neurological impairment.

Symptoms

  • Adrenal insufficiency
  • Neurological decline
  • Vision and hearing loss
  • Behavioral changes

Reasons

ABCD1 gene mutation.

Diagnosis

Plasma very long chain fatty acids, genetic testing.

Treatment

Lorenzo's fat, bone marrow transplant.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of adrenal crisis, emergency services should be consulted.

This page is for general information purposes only.