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Adrenoleukodystrophy

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Definition

noun

A progressive X-linked metabolic disorder involving a mutation in ABCD1 gene, and therefore impairs the degradation of very long chain fatty acids, thereby leading to their accumulation in tissues and organs, such as the central nervous system wherein the condition leads to the deterioration of the myelin sheath


Supplement

Adrenoleukodystrophy is a metabolic disorder caused by a dysfunctional peroxisome. Thus, it is one of the many types of peroxisomal disorder. This disorder is a progressive disorder wherein the myelin sheath protecting the spinal cord deteriorates. It is caused by a mutation in the ABCD1 gene. In humans, this gene codes for a peroxisomal membrane transporter protein. This protein transfers fatty acids into the peroxisome. The gene is located in the X chromosome (i.e. Xq28). It is inherited as X-linked recessive, which means that males are likely to inherit the condition and manifest the symptoms. The females inheriting the defective gene serve as carriers. Adrenoleukodystrophy manifests in different ways. In males, there are seven phenotypes: childhood cerebral, adolescent, adrenomyeloneuropathy, adult cerebral, olivo-ponto-cerebellar, Addison disease only, and asymptomatic. In females, there are five phenotypes: asymptomatic, mild myelopathy, moderate to severe myeloneuropathy, cerebral involvement, and adrenal involvement.1

Adrenoleukodystrophy is characterized by the buildup of fatty acids. When fatty acids accumulate in nerves, the myelin sheath is damaged and degraded. Other symptoms of adrenoleukodystrophy include seizures and hyperactivity.



Synonym(s):

  • X-linked adrenoleukodystrophy
  • bronze Schilder disease
  • Siemerling–Creutzfeldt disease

See also:


Reference(s):
1 Moser, H. W., Smith, K. D., Watkins, P. A., Powers, J., and Moser, A. (2001). "131. X-Linked Adrenoleukodystrophy". In Scriver, C.W., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B. Metabolic and Molecular Bases of Inherited Disease. 2(8th ed.). New York: McGraw Hill.