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Definitions of X linked Adrenoleukodystrophies

  1. An X- linked recessive leukodystrophy characterized by an abnormal accumulation of saturated very long chain fatty acids in LYSOSOMES. It primarily affects the white matter of the CENTRAL NERVOUS SYSTEM and the ADRENAL CORTEX. This disorder results from defective beta- oxidation and occurs almost exclusively in males and has multiple phenotypes. Relatively common clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; adrenal insufficiency; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. A related condition, adrenomyeloneuropathy, usually has its onset in adult life and is characterized by spastic paraparesis, adrenal insufficiency, neuropathy, and HYPOGONADISM. ( From Neuropediatrics 1998 Feb; 29( 1): 3- 13; Menkes, Textbook of Child Neurology, 5th ed, p188) The defective gene for this disorder has been localized to the long arm of the X chromosome ( Xq28).
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