Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

@article{Corzo2002ContiguousDO,
  title={Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.},
  author={Deyanira Corzo and William Sumner Gibson and Kory R Johnson and Grant E. Mitchell and Guy Lepage and Gerald Frederick James Cox and Robin E. Casey and Carolyn Zeiss and Heidi Tyson and Garry R Cutting and G V Raymond and Kirby D. Smith and Paul Anthony Watkins and Ann Moser and Hugo W. Moser and Steven J. Steinberg},
  journal={American journal of human genetics},
  year={2002},
  volume={70 6},
  pages={
          1520-31
        }
}
X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette-transporter superfamily. Individuals with ABCD1 mutations accumulate very-long-chain fatty acids (VLCFA) (carbon length >22). Childhood cerebral X-ALD is the most devastating form of the disease. These children have the earliest onset (age 7.2 +/- 1.7 years… CONTINUE READING

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