Adrenoleukodystrophy

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Adrenoleukodystrophy (ALD) is a rare and fatal genetic disorder that affects the nerves and adrenal glands.
Patients with ALD experience a progressive loss of brain function, and may exhibit a variety of symptoms, including behavioral changes, poor memory, visual loss, learning disabilities, seizures, difficulty swallowing, deafness, difficulty walking, poor coordination, and fatigue. Individuals affected with ALD usually die within one to 10 years after symptoms appear.
Patients with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA), which are fatty acids with at least 20 carbons. VLCFA accumulate in tissues and organs because patients with ALD are unable to produce a protein normally involved in transporting VLCFAs into the peroxisome, an compartment in the cell where they are normally broken down.
As a result, the condition leads to the breakdown of the myelin sheath, which is a fatty membrane that surrounds and protects the brain and spinal cord. In patients with ALD, the adrenal glands also often become dysfunctional. When functioning normally, the adrenal glands secrete cortisol, which regulates proper glucose metabolism, blood pressure, and insulin release for blood sugar regulation.
Currently, there is no known way to prevent ALD.

Related Terms

Adrenal gland, ALD, brain defects, leukodystrophies, Lorenzo's oil, muscle defects, myelin sheath, very long chain fatty acids, VLCFA, X chromosome, X-linked recessive.