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[Endocrine disease in adrenoleukodystrophy].

S Girard1, E Bruckert, G Turpin

  • 1Service d'Endocrinologie-Métabolisme, Groupe Hospitalier Pitié-Salpêtrière, 83, boulevard de l'Hôpital, 75651 Paris Cedex 13.

Annales De Medecine Interne
|March 10, 2001
PubMed
Summary

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder causing very long chain fatty acid buildup. Early screening is crucial for primary adrenal insufficiency in children and adults to detect X-ALD.

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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Context:

  • X-linked adrenoleukodystrophy (X-ALD) is the most common genetic disorder affecting myelin in the central and peripheral nervous systems.
  • Biochemical abnormality involves very long chain fatty acid (VLCFA) accumulation due to defective peroxisomal catabolism.
  • Characterized by neurological and endocrine disorders, including primary adrenal insufficiency and testicular failure.

Purpose:

  • To review the clinical manifestations, diagnosis, and current therapeutic strategies for X-linked adrenoleukodystrophy.
  • To highlight the importance of screening for X-ALD in patients with primary adrenal insufficiency.
  • To discuss the efficacy of existing treatments and emerging therapeutic options.

Summary:

  • X-ALD presents with variable clinical manifestations, including severe cerebral forms in boys and spinal cord degeneration in adults.
  • Adrenal insufficiency is a common endocrine manifestation, often preceding or coinciding with neurological symptoms.
  • Dietary therapy has shown limited efficacy in cerebral forms; bone marrow transplantation is recommended for early-stage cerebral involvement.

Impact:

  • Early detection through screening can identify subclinical forms of X-ALD, particularly in individuals with primary adrenal insufficiency.
  • Emerging therapies like gene therapy, lovastatin, and 4-phenylbutyrate show promise in normalizing VLCFA levels, requiring further clinical assessment.
  • Understanding X-ALD's pathophysiology and clinical spectrum is vital for timely diagnosis and management, improving patient outcomes.

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