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ALD (adrenoleukodystrophy)

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This is an X-linked recessive disorder resulting in the accumulation of long-chain fatty acid esters of cholesterol.

Patients have adrenal insufficiency.

There are two forms of adrenoleukodystrophy:

  • juvenile form, which begins before age 12, and is associated with progressive deterioration, to death in 3-5 years
  • adult form, in which there is a slowly progressing spastic paraparesis and peripheral neuropathy, cerebellar ataxia, dementia and hypogonadism

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