Cited by 664Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchHereditary Neurological Disorders

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X-linked adrenoleukodystrophy

Moser, Hugo W, Mahmood, Asif, Raymond, Gerald V·2007·Nature Clinical Practice Neurology

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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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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
Publisher: Springer Science and Business Media LLC
Published: 2007-03
Volume: 3
Issue: 3
Pages: 140-151
ISSN: 1745-834X (ISSN-L)
1745-8358
DOI: 10.1038/ncpneuro0421
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
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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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