Neonatal ICU

Adrenoleukodystrophy (ALD)

Adrenoleukodystrophy, or ALD, is a genetic disorder that causes damage to the myelin sheath, which is a membrane that surrounds the brain’s nerve cells.  Infants and adults who suffer from ALD build up high levels of saturated, very long chain fatty acids (VLCFA) in the brain and and adrenal cortex because they lack the ability to break these fats down.  There is an enzyme produced to break these fats down, and people with ALD have a defiency of this enzyme.  With decreasing myelin and a poor functioning adrenal gland are the main characteristics of ALD.

Symptoms for Adrenoleukodystrophy (ALD)

In children, symptoms may include: abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia.

In adults, progressive stiffness, weakness or paralysis of the lower limbs, and ataxia are common symptoms.  Also, slow deterioration of brain function may occur.

Treatment for Adrenoleukodystrophy (ALD)

There is no cure for ALD, but there are several treatment options available.  Treatment with adrenal hormones can mena the difference between life and death, and regular monitoring of the adrenal system is crucial to maintaining optimal treatment.  Other support treatments can include physical therapy and psychological support.

Boys with a form of X-ALD may benefit from bone marrow transplants, though this comes with procedural risks of mortality and morbidity.  This treatment option is not recommended for adults with ALD, as well as neonatal infants with forms of the disorder.

Oral administration of docosahexanoic acid (DHA) may help infants and children with neonatal ALD.

Prognosis of Adrenoleukodystrophy (ALD)

The outcome for people affected with ALD is generally poor, as death usually occurs within 1 to 10 years after the onset of the disorder and its symptoms.

Resources

All information displayed here on adrenoleukodystrophy (ALD) can be found at the National Institute of Neurological Disorders and Stroke website.  Click here for further information.