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:
Adrenoleukodystrophy, X-Linked; Adrenomyeloneuropathy; X-Linked Adrenoleukodystrophy; ALD (Adrenoleukodystrophy); ALDs (Adrenoleukodystrophy); Adrenoleukodystrophies; Adrenoleukodystrophies, X-Linked; Adrenomyeloneuropathies; Schilder Addison Complex; X Linked Adrenoleukodystrophy; X-Linked Adrenoleukodystrophies; Schilder-Addison Complex
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)


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
2. Fatty Acids (Saturated Fatty Acids)IBA
3. ATP-Binding Cassette Transporters (ABC Transporters)IBA
4. Lysophosphatidylcholines (Lysophosphatidylcholine)IBA
5. BaclofenFDA LinkGeneric
6. Severe combined immunodeficiency due to adenosine deaminase deficiencyIBA
7. GlycosphingolipidsIBA
8. DNA Polymerase III (Pol III)IBA
9. Lorenzo's oilIBA
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)
2. Stem Cell Transplantation
3. Heterologous Transplantation (Xenotransplantation)
4. Hematopoietic Stem Cell Transplantation
5. Transplantation (Transplant Recipients)