![]() ![]() Early diagnosis and treatment can prevent overt Addison disease, and significantly reduce the frequency of the severe childhood cerebral phenotype. The timely use of these assays is essential for genetic counseling and therapy. Assays of very long chain fatty acids in plasma, cultured chorion villus cells and amniocytes, and mutation analysis permit presymptomatic and prenatal diagnosis, as well as carrier identification. Approximately 50% of female carriers develop a spastic paraparesis secondary to myelopathic changes similar to adrenomyeloneuropathy. These phenotypes are frequently misdiagnosed, respectively, as attention-deficit hyperactivity disorder (ADHD), multiple sclerosis, or idiopathic Addison disease. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults and Addison disease without neurologic manifestations. X-ALD is panethnic and affects approximately 1:20,000 males. ![]() ![]() X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. ![]()
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