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Adrenoleukodystrophy Collection
The leukodystrophies encompass several genetic disorders in which damage to the myelin sheath occurs. Adrenoleukodystrophy (ALD OMIM # 300100) is an X-linked recessive disorder that is caused by mutations in the ABCD1 gene (OMIM # 300371). ABCD1 plays a role in peroxisomal beta-oxidation and mutations in this gene lead to the accumulation of the saturated very long chain fatty acids in all tissues of the body. ALD has three main phenotypes including a childhood cerebral form, an adult form known as Adrenomyeloneuropathy (AMN), and Addison disease only. Unlike ALD, Neonatal Adrenoleukodystrophy (NALD OMIM # 202370) is an autosomal recessive disorder caused by dysfunction of peroxisomal enzymes. Mutations in several different genes have been associated with NALD. Pseudoneonatal Adrenoleukodystrophy (PNALD OMIM # 264470) is caused by a deficiency of acyl-CoA oxidase and results in a clinical phenotype similar to NALD.
Our collection of adrenoleukodystrophy cell lines comprises a total of twenty-eight samples, including twenty-three from individuals affected with ALD, NALD and PNALD. There are eight cell lines from individuals with NALD, four from individuals with PNALD, and eleven from individuals with ALD, including AMN. Clinical information for the twenty-three affected individuals is summarized in a table and is available for download as an Excel spreadsheet .
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