Pediatric Adrenoleukodystrophy (ALD)

Pediatric Adrenoleukodystrophy (ALD)

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Summary

Adrenoleukodystrophy (ALD) is a genetic disease that causes problems in a child’s nervous system and adrenal glands. 

Expanded Overview

Adrenoleukodystrophy is a rare, genetic disorder in which the body cannot break down fatty acids in the brain. The resulting buildup of fatty acids leads to a breakdown of the myelin sheath – the insulation covering that protects the nerve fibers in the brain. This makes it impossible for nerves in the body to communicate with the brain. ALD also affects the adrenal gland, which produces important hormones that control metabolism, blood pressure and the body’s responses to stress. 

Types

There are three main types of adrenoleukodystrophy: 

  • Addison’s disease - A disorder in which the adrenal glands do not produce enough hormones.
  • Adrenomyelopathy - A condition that causes spinal cord dysfunction, and typically affects young adult males. 
  • Cerebral ALD - A severe form of adrenoleukodystrophy that damages the myelin sheath and prohibits the brain from working properly. This form only affects boys, with symptoms usually starting between ages 2 and 10. 

Causes

Adrenoleukodystrophy is caused by a gene mutation on the X chromosome, which is passed on from a mother to her child. The condition is more common in males. 

Symptoms

The symptoms of adrenoleukodystrophy depend on the type your child develops. 

Symptoms of Addison’s disease include:

Symptoms of adrenomyelopathy include:

Symptoms of cerebral ALD include:


 

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