Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Also Known As:

Networked: 758 relevant articles (15 outcomes, 36 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Metachromatic Leukodystrophy (Sulfatide Lipidosis)
2.	X-Linked Combined Immunodeficiency Diseases (X Linked Severe Combined Immunodeficiency)
3.	Globoid Cell Leukodystrophy (Krabbe Disease)
4.	Neurodegenerative Diseases (Neurodegenerative Disease)
5.	Addison Disease (Addison's Disease)

Experts

1.	Wanders, Ronald J A: 20 articles (04/2014 - 07/2003)
2.	Kemp, Stephan: 19 articles (03/2015 - 08/2002)
3.	Pujol, Aurora: 16 articles (05/2015 - 12/2004)
4.	Berger, Johannes: 14 articles (02/2014 - 10/2002)
5.	Raymond, Gerald V: 13 articles (09/2013 - 10/2002)
6.	Forss-Petter, Sonja: 12 articles (01/2014 - 10/2002)
7.	Moser, Hugo W: 12 articles (09/2007 - 08/2002)
8.	Moser, Ann B: 11 articles (11/2015 - 08/2002)
9.	Fourcade, Stéphane: 11 articles (03/2015 - 06/2003)
10.	Imanaka, Tsuneo: 11 articles (12/2013 - 09/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Adrenoleukodystrophy:

1.	erucic acidIBA 01/24/1992 - "Erucic acid (C22:l fatty acid) has been found to be useful in the treatment of adrenoleukodystrophy (ALD). " 11/01/1989 - "We investigated the biochemical and clinical efficacy of dietary erucic acid (C22:1) therapy for X-linked adrenoleukodystrophy (ALD). " 05/01/2008 - "Because X-linked adrenoleukodystrophy is treated using erucic acid (22:1n-9), we assessed its metabolism in rat liver and heart following infusion of [14-(14)C]22:1n-9 (170 Ci/kg) under steady-state-like conditions. " 04/01/1996 - "Effect of erucic acid on platelets in patients with adrenoleukodystrophy." 11/01/1994 - "Effects of erucic acid therapy on Japanese patients with X-linked adrenoleukodystrophy."
2.	Fatty Acids (Saturated Fatty Acids)IBA 12/01/2003 - "This study was designed to understand the role of inflammatory mediators involved in the neurobiology of childhood adrenoleukodystrophy (cALD) by comparing the differential expression of the inflammatory mediators with metabolite very long chain fatty acids that accumulate in this disease. " 11/01/2015 - "See Aubourg (doi:10.1093/awv271) for a scientific commentary on this article.X-linked adrenoleukodystrophy is caused by mutations in the ABCD1 gene leading to accumulation of very long chain fatty acids. " 05/01/2015 - "Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions." 03/01/2015 - "X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease characterized by the accumulation of very long chain fatty acids (VLCFAs) due to a loss of function of the peroxisomal transporter ABCD1. " 01/01/2015 - "For the visual diagnostic of patients, the Scatter plot was a reliable method for the diagnostic patterns of very long chain fatty acids of patients with X-linked adrenoleukodystrophy disorders. "
3.	ATP-Binding Cassette Transporters (ABC Transporters)IBA 08/01/2003 - "In this study we addressed the targeting requirements of peroxisomal ABC transporters, in particular the human adrenoleukodystrophy protein. " 12/01/2012 - "[Peroxisomal ABC transporters and X-linked adrenoleukodystrophy]." 09/14/2007 - "Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)." 04/29/2000 - "To date X-linked adrenoleukodystrophy (X-ALD) is the only human disease known to result from a defect of one of these ABC transporters, ALDP. " 04/29/2000 - "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p."
4.	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 08/16/2012 - "Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening." 01/01/2015 - "Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy." 01/01/2015 - "Quality control materials (dried-blood spots enriched with hexacosanoyl lysophosphatidylcholine) were prepared and stored at different temperatures for up to 518days to evaluate the stability of this biomarker for X-linked adrenoleukodystrophy. " 01/01/2015 - "The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening." 03/01/2012 - "Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy."
5.	BaclofenFDA LinkGeneric 02/01/2001 - "In this report, continuous infusion of intrathecal baclofen was used to treat the severe spasticity of an 8-year-old patient with X-linked adrenoleukodystrophy. " 02/01/2001 - "Intrathecal baclofen in X-linked adrenoleukodystrophy." 01/01/2009 - "A male patient with adrenoleukodystrophy and a baclofen pump implant was admitted to the urology department with bladder stones. " 02/01/2001 - "The improvement in this patient's quality of life, including the elimination of pain and the increased ease of care, suggests that intrathecal baclofen should be considered as part of the treatment strategy for spasticity associated with X-linked adrenoleukodystrophy and other neurodegenerative disorders in children and adults."
6.	Severe combined immunodeficiency due to adenosine deaminase deficiencyIBA 05/01/2011 - "Retroviral vectors have been developed for hematopoietic stem cell (HSC) gene therapy and have successfully cured X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency (ADA-SCID), adrenoleukodystrophy, and Wiskott-Aldrich syndrome. " 12/01/2011 - "To date, HSC gene therapy has been successfully employed in the clinic for improving clinical outcomes in small numbers of patients with X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency (ADA-SCID), adrenoleukodystrophy (ALD), thalassemia, chronic granulomatous disease (CGD), and Wiskott-Aldrich syndrome (WAS). "
7.	GlycosphingolipidsIBA 05/28/1996 - "They may help to understand the deleterious effects of glycosphingolipids with very long chain fatty acids in adrenoleukodystrophy."
8.	DNA Polymerase III (Pol III)IBA 04/01/2015 - "Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. "
9.	Lorenzo's oilIBA 07/01/2014 - "We reported the case of a 39-year-old male with X-linked adrenoleukodystrophy who developed LP secondary to the use of Lorenzo's oil. " 08/01/2013 - "Adrenoleukodystrophy and the mitochondrial connection: clues for supplementing Lorenzo's oil." 01/01/2013 - "Dietary treatment for X-linked adrenoleukodystrophy: is "Lorenzo's oil" useful?" 01/01/2011 - "Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report." 09/01/2007 - ""Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy."
10.	EnzymesIBA 01/01/1997 - "Among the diseases characterised by a deficiency in individual peroxisomal enzymes, most frequent is the X-bound andrenoleukodystrophy which has several clinical phenotypes manifestant in childhood, as well as a clinically less severe form manifestant in adulthood-adrenomyeloneuropathy. " 06/15/1999 - "Because of polymicrogyria in conditions such as infantile Refsum disease and infantile adrenoleukodystrophy, peroxisomal enzymes are thought to play an important role in neuronal migration and possibly myelination. " 06/03/1991 - "Immunoblot analyses of peroxisomal beta-oxidation enzymes showed that subunit A of acyl-CoA oxidase gave a stronger immunoreaction in fibroblasts of Zellweger and X-linked adrenoleukodystrophy patients than in those of controls. " 01/01/1995 - "As peroxisomes possess some of the integral enzymes for cholesterol biosynthesis, the role of these organelles in cholesterol formation was studied in dermal fibroblasts with three types of peroxisomal defect: group I, characterized by the absence of intact peroxisomes (neonatal adrenoleukodystrophy, cerebrohepatorenal syndrome of Zellweger); group II, showing impaired activity of a single peroxisomal enzyme (X-linked adrenoleukodystrophy, adrenomyeloneuropathy); and group III, defective in more than one peroxisomal enzyme (rhizomelic chondrodysplasia punctata). " 11/01/2011 - "The aim of this study was to investigate the correlation between obesity and peroxisomal lipid metabolism, particularly very long-chain fatty acid (VLCFA) metabolism, gene expression of peroxisomal β-oxidation enzymes, peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy (ABCD1) gene and its related gene, ABCD2, the elongation of the VLCFA (ELOVL) gene family and the transcriptional factors involved in the regulation of these genes, including peroxisome proliferator-activated receptor α (PPARα) and sterol regulatory element-binding protein. "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/1986 - "Allogeneic bone marrow transplantation in adrenoleukodystrophy: clinical, pathologic, and biochemical studies." 06/01/2012 - "The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy." 05/01/2010 - "This article will review several of the more common genetic myelin disorders and currently available therapies, including bone marrow transplantation for adrenoleukodystrophy. " 08/01/2009 - "Graves' orbitopathy in a patient with adrenoleukodystrophy after bone marrow transplantation." 02/01/2009 - "Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy."
2.	Stem Cell Transplantation 01/01/2015 - "The aim of the study was to analyse MR images of the brain, including advanced MR techniques, such as single voxel spectroscopy (MRS) and diffusion tensor imaging (DTI), in children with X-linked adrenoleukodystrophy (X-ALD) before and after haematopoietic stem cell transplantation (HSCT) and to establish the imaging criteria which may be helpful in the assessment of disease staging, qualification to HSCT and follow-up. " 01/01/2015 - "The Role of MR Imaging in the Assessment of Clinical Outcomes in Children with X-Linked Adrenoleukodystrophy after Allogeneic Haematopoietic Stem Cell Transplantation." 02/01/2007 - "Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy." 12/01/2005 - "Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen." 01/01/2003 - "In an attempt to elucidate prognostic factors, the data on 12 boys who underwent haematopoietic stem cell transplantation (HSCT) for cerebral X-linked adrenoleukodystrophy were evaluated. "
3.	Heterologous Transplantation (Xenotransplantation) 06/01/2011 - "Marking studies in humans, murine xenografts, and large animals have helped optimize conditions for gene transfer into CD34(+) hematopoietic progenitors, contributing to the achievement of gene transfer efficiencies sufficient for clinical benefit in several serious genetic diseases such as X-linked severe combined immunodeficiency and adrenoleukodystrophy. "
4.	Hematopoietic Stem Cell Transplantation 12/01/2015 - "Our data showed that hematopoietic stem cell transplantation performed at an advanced stage of the cerebral X- linked adrenoleukodystrophy would accelerate the progression of the disease. " 01/01/2015 - "Pre-symptomatic hematopoietic stem cell transplantation is essential to achieve best possible outcomes for patients with the childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD). " 03/01/2013 - "DTI in cerebral X-linked adrenoleukodystrophy may demonstrate abnormalities in both affected and nonaffected WM; these values have not been studied serially after hematopoietic stem cell transplantation. " 03/01/2013 - "Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation." 07/01/2010 - "Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy."
5.	Transplantation (Transplant Recipients) 10/01/1994 - "Although the adrenoleukodystrophy MR severity score did not change in three patients after transplantation, two of these patients did show improved margination of disease. " 08/01/2015 - "Transplantation of haploidentical stem cells combined with the infusion of umbilical cord blood is a novel approach for treating cerebral X-linked adrenoleukodystrophy. " 03/01/2012 - "Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages." 09/01/2011 - "Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy." 06/01/2007 - "Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy."