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{{Adrenoleukodystrophy}}
{{CMG}} '''Associate Editor-In-Chief:''' {{Ibtisam}}
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
{{SK}} Adrenoleucodystrophy, Adrenomyeloneuropathy, Bronze Schilder disease, Siemerling-Creutzfeldt disease, Addison-Schilder syndrome


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==[[Adrenoleukodystrophy overview|Overview]]==


==Overview==
==[[Adrenoleukodystrophy historical perspective|Historical Perspective]]==
'''Adrenoleukodystrophy''' ('''ALD''') is a degenerative disorder of [[myelin]], a complex fatty neural tissue that insulates many nerves of the [[central nervous system|central]] and [[peripheral nervous system]]s. Without myelin, [[nerve]]s are unable to conduct an impulse, leading to increasing [[disability]] as myelin destruction increases and intensifies. The victims of ALD are always male, and the disease begins its expression around the ages 5 to 10. The disease is due to an [[X-linked]] inheritance of peroxisomes that cannot properly process long chain fatty acids in the brain. 


ALD is a type of [[leukodystrophy]], disorders affecting the growth and/or development of myelin. Leukodystrophies are different from ''demyelinating'' disorders such as [[multiple sclerosis]] where myelin is formed normally but is lost by immunologic dysfunction or for other reasons.
==[[Adrenoleukodystrophy classification|Classification]]==


==Pathophysiology==
==[[Adrenoleukodystrophy pathophysiology|Pathophysiology]]==
The most common form of ALD is [[X-linked]] (the defective gene is on the X chromosome, location Xq28), and is characterized by excessive accumulation of very long chain [[fatty acids]] (VLCFA) &mdash; fatty acids chains with 24&ndash;30 [[carbon]] atoms (particularly hexacosanoate, C26) in length. This was originally described by Moser ''et al'' in 1981.<ref>Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, Kishimoto Y. ''Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.'' Neurology 1981;31:1241-9. PMID 7202134.</ref> So, when the ALD gene was discovered in 1993, it was a surprise that the corresponding protein was in fact a member of a family of transporter proteins, not an enzyme. It is still a mystery as to how the transporter affects the function of the fatty acid enzyme and, for that matter, how high levels of very long chain fatty acids cause the loss of myelin on nerve fibers.


The gene (''[[ABCD1]]'' or "ATP-binding cassette, subfamily D, member 1") codes for a protein that transfers fatty acids into [[peroxisome]]s, the cellular [[organelle]]s where the fatty acids undergo [[beta oxidation|β-oxidation]].<ref>Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P. ''Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.'' [[Nature (journal)|Nature]] 1993;361:726-30. PMID 8441467.</ref> A dysfunctional gene leads to the accumulation of very long chain fatty acids (VLCFA).
==[[Adrenoleukodystrophy causes|Causes]]==


The precise mechanisms through which high VLCFA concentrations cause the disease are still unknown as of 2005, but accumulation is severe in the organs affected.
==[[Adrenoleukodystrophy differential diagnosis|Differentiating Adrenoleukodystrophy from Other Diseases]]==


The prevalence of X-linked adrenoleukodystrophy is approximately 1 in 20,000 individuals. This condition occurs with a similar frequency in all populations.
==[[Adrenoleukodystrophy epidemiology and demographics|Epidemiology and Demographics]]==


==Symptoms==
==[[Adrenoleukodystrophy risk factors|Risk Factors]]==
The clinical presentation is largely dependent on the age of onset of the disease. The most severe type is the childhood cerebral form, which normally occurs in males between the ages of 5 and 10 and is characterized by failure to develop, [[seizure]]s, [[ataxia]], [[adrenal insufficiency]], as well as degeneration of visual and auditory function. This form can also occur in [[adolescent]]s and very rarely in adults.


In another form of ALD, which primarily strikes young men, the [[spinal cord]] dysfunction is more prominent and therefore is called ''adrenomyeloneuropathy'', or "AMN." The patients usually present with weakness and numbness of the limbs and [[urination]] or [[defecation]] problems. Most victims of this form are also males, although some female carriers exhibit symptoms similar to AMN.
==[[Adrenoleukodystrophy screening|Screening]]==


Adult and neonatal (which tend to affect both males and females and be inherited in an [[autosomal recessive]] manner) forms of the disease also exist but they are extremely rare. Some patients may present with sole findings of [[adrenal insufficiency]] (Addison's disease). ALD also causes uncontrollable rage in some cases.
==[[Adrenoleukodystrophy natural history, complications and prognosis|Natural History, Complications, and Prognosis]]==


==Diagnosis==
==Diagnosis==
 
[[Adrenoleukodystrophy history and symptoms|History and Symptoms]] | [[Adrenoleukodystrophy physical examination|Physical Examination]] | [[Adrenoleukodystrophy laboratory findings|Laboratory Findings]] | [[Adrenoleukodystrophy electrocardiogram|Electrocardiogram]] | [[Adrenoleukodystrophy x ray|X Ray]] | [[Adrenoleukodystrophy CT|CT]] | [[Adrenoleukodystrophy MRI|MRI]] | [[Adrenoleukodystrophy echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Adrenoleukodystrophy other imaging findings|Other Imaging Findings]] | [[Adrenoleukodystrophy other diagnostic studies|Other Diagnostic Studies]]
The diagnosis is established by clinical findings and the detection of [[blood plasma|serum]] long chain [[fatty acid]] levels.
 
[[MRI]] examination reveals white matter abnormalities, and neuroimaging findings of this disease are quite reminiscent of the findings of multiple sclerosis.
 
Genetic testing for the analysis of the defective [[gene]] is available in some centers.
 
===Histopathology: Adrenoleukodystrophy of Brain===
 
<youtube v=bv_Ra5pxPRI/>


==Treatment==
==Treatment==
While there is currently no cure for the disease, some dietary treatments, for example, [[Lorenzo's oil]] in combination with a diet low in VLCFA, have been used with limited success, especially before disease symptoms appear. A recent study by Moser ''et al'' (2005) shows positive long-term results with this approach;<ref>Moser HW, Raymond GV, Lu S-E, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A. ''Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's Oil.'' Arch Neurol 2005;62;1073-80. PMID 16009761.</ref> see also [[the Myelin Project]].
[[Adrenoleukodystrophy medical therapy|Medical Therapy]] | [[Adrenoleukodystrophy surgery|Surgery]] | [[Adrenoleukodystrophy primary prevention|Primary Prevention]] | [[Adrenoleukodystrophy secondary prevention|Secondary Prevention]] | [[Adrenoleukodystrophy cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Adrenoleukodystrophy future or investigational therapies|Future or Investigational Therapies]]


[[Bone marrow transplantation]] has been proven to help ALD who are either presymptomatic or exhibiting mild symptoms early in the course of the disease.
==Case Studies==
[[Adrenoleukodystrophy case study one|Case #1]]


[[Lovastatin]] is an anticholesterol drug that seems to help, but researchers aren't sure how or why.
==External links==


Treatment, however, is to AID the symptoms and is NOT a cure.
*[http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.226 Adrenoleukodystrophy] at [[National Center for Biotechnology Information]]
*[http://patft.uspto.gov/netacgi/nph-Parser?Sect1=PTO2&Sect2=HITOFF&u=%2Fnetahtml%2FPTO%2Fsearch-adv.htm&r=1&f=G&l=50&d=PTXT&p=1&S1=5331009.PN.&OS=pn/5331009&RS=PN/5331009/ US Patent 5,331,009] &mdash; Patent to Croda International Plc on treating ALD with special oil composition inspired by Augusto Odone


==References==
==References==
{{reflist|2}}
{{reflist|2}}
==External links==
* [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.226 Adrenoleukodystrophy] at [[National Center for Biotechnology Information]]
* [http://patft.uspto.gov/netacgi/nph-Parser?Sect1=PTO2&Sect2=HITOFF&u=%2Fnetahtml%2FPTO%2Fsearch-adv.htm&r=1&f=G&l=50&d=PTXT&p=1&S1=5331009.PN.&OS=pn/5331009&RS=PN/5331009/ US Patent 5,331,009] &mdash; Patent to Croda International Plc on treating ALD with special oil composition inspired by Augusto Odone


{{Metabolic pathology}}
{{Metabolic pathology}}
{{Peroxisomal disorders}}
{{Peroxisomal disorders}}
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[[Category:Endocrinology]]
 
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Latest revision as of 15:05, 24 August 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor-In-Chief: Ibtisam Ashraf, M.B.B.S.[2]

For patient information click here

Synonyms and keywords: Adrenoleucodystrophy, Adrenomyeloneuropathy, Bronze Schilder disease, Siemerling-Creutzfeldt disease, Addison-Schilder syndrome

Adrenoleukodystrophy
ICD-10 E71.3
ICD-9 330.0, 277.86
OMIM 300100 202370
DiseasesDB 292
MeSH D000326

Overview

Historical Perspective

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

Case #1

External links

References

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