Rare Diseases Symptoms Automatic Extraction

X-linked adrenoleukodystrophy: pathogenesis and treatment.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood. A subset of male patients, however, develops a fatal cerebral demyelinating disease, cerebral adrenoleukodystrophy. Female patients also develop progressive myelopathy and peripheral neuropathy, but generally at a later age than males. They only very rarely develop adrenocortical insufficiency or cerebral adrenoleukodystrophy. This review proposes to simplify the classification of the clinical spectrum of X-ALD and reviews the largely unresolved pathophysiological mechanisms and the current treatment options.

Diseases presenting "peripheral neuropathy" symptom

  • adrenomyeloneuropathy
  • esophageal squamous cell carcinoma
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • kallmann syndrome
  • krabbe disease
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated