Adrenoleukodystrophy
Adrenoleukodystrophy Microchapters |
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Adrenoleukodystrophy On the Web |
American Roentgen Ray Society Images of Adrenoleukodystrophy |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Synonyms and keywords: Adrenoleucodystrophy, Adrenomyeloneuropathy, Bronze Schilder disease, Siemerling-Creutzfeldt disease, Addison-Schilder syndrome
Adrenoleukodystrophy | |
ICD-10 | E71.3 |
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ICD-9 | 330.0, 277.86 |
OMIM | 300100 202370 |
DiseasesDB | 292 |
MeSH | D000326 |
Overview
Historical Perspective[1]
- Initially it was described in germany by Siemerling and Creutzfeld in 1923. They called it Bronzekrankheitund Sklerosierende Encephalitis.
- Later on, it was designated as Schilder’s disease. But It was changed to "Adrenoleukodystrophy" by Michael Blaw in 1970.
- The X-linked recessive inheritance was revealed by Fanconi et al in 1963.
- In 1976, Igarashi et al described the accumulation of saturated very long chain fatty acids (VLCFAs) in brain and adrenal tissues.
Classification
Pathophysiology
Causes
Differentiating Adrenoleukodystrophy from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
External links
- Adrenoleukodystrophy at National Center for Biotechnology Information
- US Patent 5,331,009 — Patent to Croda International Plc on treating ALD with special oil composition inspired by Augusto Odone
References
- ↑ Moser HW, Raymond GV, Dubey P (2005). "Adrenoleukodystrophy: new approaches to a neurodegenerative disease". JAMA. 294 (24): 3131–4. doi:10.1001/jama.294.24.3131. PMID 16380594.
Template:Metabolic pathology Template:Peroxisomal disorders
de:Adrenoleukodystrophie hr:Adrenoleukodistrofija it:Adrenoleucodistrofia he:ALD fi:ALD sv:Adrenoleukodystrofi