Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy
Abstract
Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex. It is associated with an abnormal accumulation of saturated very long chain fatty acids and can be diagnosed by demonstrating an excess of these substances in plasma or red cells. Our laboratory has identified more than 900 hemizygotes and 1,000 heterozygotes. Approximately 50% of the hemizygotes have a rapidly progressive childhood or adolescent form of the disease. Twenty-five percent of males have a slowly progressive paraparesis in adulthood, but often are not diagnosed correctly. The illness may also present as Addison disease without apparent neurological involvement. Approximately 15% of heterozygotes develop moderately severe spastic paraparesis. It is important to diagnose ALD promptly because of the urgent need for genetic counseling and the availability of promising therapeutic interventions.
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At diagnosis, 80% of boys or adolescents with cALD and 70% of AMN patients have hormonal evidence of clinically silent adrenal insufficiency.
“At diagnosis, 80% of boys or adolescents with cALD and 70% of AMN patients have hormonal evidence of clinically silent adrenal insufficiency [65,66,67,68,69].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [66]
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Self-citationRevisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
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- Authors
- Moser, H. W., Moser, A. B., Naidu, S., & Bergin, A.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Venue
- Developmental Neuroscience
- Publisher
- S. Karger AG
- Published
- 1991-12-16
- Volume
- 13
- Issue
- 4-5
- Pages
- 254-261
- ISSN
- 0378-5866 (ISSN-L)
- 1421-9859
- OpenAlex
- W2089560150
- Cited by
- 139
- References
- 0
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 6 · 2020: 6 · 2019: 4 · 2018: 1 · 2017: 1 · 2016: 4 · 2015: 3 · 2014: 4 · 2013: 3 · 2012: 6
- FWCI
- 3.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Developmental Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (RR 00035)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD24061, HD-10981, P30HD024061, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- adrenoleukodystrophy, adrenomyeloneuropathy, X-linked recessive disorder, very long chain fatty acids, adrenal cortex, white matter demyelination, spastic paraparesis, Addison's disease, hemizygotes, heterozygotes, genetic counseling, diagnosis, treatment
- MeSH terms
- Addison Disease, Adolescent, Adrenal Glands, Adrenoleukodystrophy, Brain, Child, Coenzyme A Ligases, Cognition, False Negative Reactions, Fatty Acids, Female, Genetic Carrier Screening, Humans, Male, Paresis, Pedigree, Peripheral Nerves, Phenotype, Prognosis, Sex Factors, Spinal Cord, Prevalence
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