Neonatal adrenoleukodystrophy

Common Name(s)

Neonatal adrenoleukodystrophy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neonatal adrenoleukodystrophy" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

http://www.aldlife.org

Last Updated: 9 Apr 2014

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Global Foundation for Peroxisomal Disorders

The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents whose children are impacted by Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD. Additionally, GFPD organizes family support and informational conferences, connects families through an online support group, and provides an equipment exchange program. The GFPD currently connects more than 200 families in over 20 countries.

http://www.thegfpd.org

Last Updated: 6 Apr 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neonatal adrenoleukodystrophy" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

http://www.aldlife.org

Last Updated: 9 Apr 2014

View Details
Global Foundation for Peroxisomal Disorders

The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents whose children are impacted by Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD. Additionally, GFPD organizes family support and informational conferences, connects families through an online support group, and provides an equipment exchange program. The GFPD currently connects more than 200 families in over 20 countries.

http://www.thegfpd.org

Last Updated: 6 Apr 2013

View Details

 

General Support Organizations

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General Resources

Letter for Physicians

Letter for physicians who diagnosis/treat individuals impacted by PBD-ZSD.

Updated 6 Jan 2013

Open Doc
Letter for Lab Directors

Letter for laboratories who diagnosis individuals impacted by PBD-ZSD.

Updated 6 Jan 2013

Open Doc
Frequently Asked Questions about PBD-ZSD

Frequently Asked Questions about Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) compiled by the Global Foundation for Peroxisomal Disorders

Updated 6 Jan 2013

Open Doc
GENEReveiws article "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum"

This article by Steven J Steinberg, PhD, Gerald V Raymond, MD, Nancy E Braverman, MS, MD, and Ann B Moser, BA. was updated in May 2012 and is the most comprehensive English-language paper about this disorder.

Updated 7 Jan 2013

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ALD-AMN Route Map

A dedicated website for providing patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) a journey of their health and social care needs.

Uploaded By: ALD Life

Updated 4 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neonatal adrenoleukodystrophy" returned 7 free, full-text research articles on human participants. First 3 results:

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
 

Author(s): Deyanira Corzo, William Gibson, Kisha Johnson, Grant Mitchell, Guy LePage, Gerald F Cox, Robin Casey, Carolyn Zeiss, Heidi Tyson, Garry R Cutting, Gerald V Raymond, Kirby D Smith, Paul A Watkins, Ann B Moser, Hugo W Moser, Steven J Steinberg

Journal: Am. J. Hum. Genet.. 2002 Jun;70(6):1520-31.

 

X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette-transporter superfamily. Individuals with ...

Last Updated: 6 May 2002

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Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
 

Author(s): B V Geisbrecht, C S Collins, B E Reuber, S J Gould

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1998 Jul;95(15):8630-5.

 

Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account ...

Last Updated: 20 Aug 1998

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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
 

Author(s): B T Poll-The, F Roels, H Ogier, J Scotto, J Vamecq, R B Schutgens, R J Wanders, C W van Roermund, M J van Wijland, A W Schram

Journal: Am. J. Hum. Genet.. 1988 Mar;42(3):422-34.

 

In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by neonatal adrenoleukodystrophy. In contrast to neonatal adrenoleukodystrophy patients, hepatic peroxisomes in these siblings were enlarged in size and not decreased ...

Last Updated: 13 Apr 1988

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neonatal adrenoleukodystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Betaine and Peroxisome Biogenesis Disorders
 

Status: Recruiting

Condition Summary: Peroxisome Biogenesis Disorder (PBD)

 

Last Updated: 7 Aug 2013

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HSCT for High Risk Inherited Inborn Errors
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Tay Sachs Disease; Sandhoffs Disease; Wolman Disease; I-Cell Disease; Sanfilippo Syndrome; GM1 Gangliosidosis

 

Last Updated: 18 Dec 2013

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Human Placental-Derived Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Adrenoleukodystrophy; Niemann-Pick Disease; Metachromatic Leukodystrophy; Wolman Disease; Krabbe's Disease; Gaucher's Disease; Fucosidosis; Batten Disease; Severe Aplastic Anemia; Diamond-Blackfan Anemia; Amegakaryocytic Thrombocytopenia; Myelodysplastic Syndrome; Acute Myelogenous Leukemia; Acute Lymphocytic Leukemia

 

Last Updated: 18 Feb 2014

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