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X-linked adrenoleukodystrophy
Abstract
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations. These phenotypes are frequently misdiagnosed, respectively, as attention-deficit hyperactivity disorder (ADHD), multiple sclerosis, or idiopathic Addison disease. Approximately 50% of female carriers develop a spastic paraparesis secondary to myelopathic changes similar to adrenomyeloneuropathy. Assays of very long chain fatty acids in plasma, cultured chorion villus cells and amniocytes, and mutation analysis permit presymptomatic and prenatal diagnosis, as well as carrier identification. The timely use of these assays is essential for genetic counseling and therapy. Early diagnosis and treatment can prevent overt Addison disease, and significantly reduce the frequency of the severe childhood cerebral phenotype. A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.
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“Elevated levels of cerotic acid (C26:0) [overall reference range 0.15–1.9 µmol/l] and the ratios C24:0/C22:0 [0.32–1.19] and C26:0/C22:0 [0.0–0.03] are used for diagnostic purposes (see cutoff level comparison in Table 1 and as previously discussed by Moser et al.9).”
From Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy (2020) · cites this paper as [9]
In the citing paper
“X-linked adrenoleukodystrophy (X-ALD) is clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD) [1,2].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [2]
In the citing paper
“AMN is the most frequent phenotype of X-ALD [1,2].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [2]
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Metadata
- Authors
- Moser, H. W., Mahmood, A., & Raymond, G. V.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Raymond, Gerald V
- ORCID
- Raymond, Gerald V
- Venue
- Nature Clinical Practice Neurology
- Published
- 2007-03
- Volume
- 3
- Issue
- 3
- Pages
- 140-151
- ISSN
- 1745-834X (ISSN-L)
- 1745-8358
- OpenAlex
- W2222090074
- Cited by
- 663
- References
- 99
- Citations by year
- 2026: 15 · 2025: 20 · 2024: 26 · 2023: 22 · 2022: 20 · 2021: 21 · 2020: 28 · 2019: 17 · 2018: 23 · 2017: 24 · 2016: 27 · 2015: 21 · 2014: 39 · 2013: 28 · 2012: 39
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Clinical Practice Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- U.S. Public Health Service (M0-1-R00052)
- National Center for Research Resources
- NIH Clinical Center
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039276, HD-10981, HD39276, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, very long chain fatty acids, peroxisomal membrane proteins, ABC transporters, adrenomyeloneuropathy, Addison's disease, newborn screening, prenatal diagnosis, carrier identification, Lorenzo's oil, genetic counseling, misdiagnosis
- MeSH terms
- Adrenoleukodystrophy, Drug Combinations, Erucic Acids, Humans, Magnetic Resonance Imaging, Phenotype, Triolein, Hematopoietic Stem Cell Transplantation
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