How do abnormalities of beta oxidation of very-long-chain fatty acids cause chronic Addison disease?

Updated: Mar 11, 2020
  • Author: George T Griffing, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Abnormalities of beta oxidation of very-long-chain fatty acids

  • These patients (usually men) present with adrenocortical insufficiency and features of progressive demyelination of the CNS. It is caused by mutation in the ABCD1 gene. it is the most common cause of adrenal insufficiency in a male child less than 7 years of age.

  • This is caused by the accumulation of very-long-chain fatty acids (VLCFA) in various organs, including the adrenal cortex, brain, testis, and liver.

  • These disorders are X-linked recessive, with poor penetrance.

  • Other symptoms include cognitive dysfunction, behavioral problems, disturbance of gait, and emotional lability.

  • Two subtypes are described. The first subtype is adrenoleukodystrophy (ALD). This usually presents in childhood. Thirty percent of cases may present with adrenal insufficiency before the onset of neurologic symptoms. Other features include severe hypotonia, seizure disorder, retinitis pigmentosa, and optic atrophy. The second subtype is adrenomyeloneuropathy (AMN). [34] This usually is mild. It tends to present in the 20- to 40-year age group with features of adrenal insufficiency and progressive CNS demyelination.

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