Adrenoleukodystrophy: Frequency of presentation as a psychiatric disorder
Abstract
Adrenoleukodystrophy (ALD) is an inheritable clinical disorder in which very long chain fatty acids accumulate in several tissue types. ALD is underrepresented in the psychiatric literature, although the disorder may cause an organic brain syndrome, often misdiagnosed as another psychiatric problem. A survey of 109 reported cases of ALD revealed that 39% presented with some psychiatric sign or symptom, whereas 17% presented exclusively as a psychiatric problem. A computed axial tomogram (CAT) head scan is recommended to rule out ALD in psychiatric patients suspected of having organic brain disease, as a characteristic image may be found in ALD patients who have brain involvement.
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Most often, insidious signs of cALD appear in children older than 3 years, first as inattention, regression of verbal comprehension and reasoning, or decline in school or behavioral symptoms.
“Most often, insidious signs appear in children older than 3 years, first as inattention, regression of verbal comprehension and reasoning, or decline in school or behavioral symptoms [35,36].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [35]
Cites
Adrenomyeloneuropathy: A protracted, pseudosystematic variant of adrenoleukodystrophy
Probst, A., Ulrich, J., Heitz, P. U., & Herschkowitz, N. (1980) · Acta Neuropathologica · doi:10.1007/bf00690750 · Cited by 36 · see citing works
Adrenomyeloneuropathy: A report on two families
Martin, J. J., Lowenthal, A., Ceuterick, C., & Gacoms, H. (1982) · Journal of Neurology · doi:10.1007/bf00313395 · Cited by 27 · see citing works
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Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
Sobue, G., Ueno‐Natsukari, I., Okamoto, H., Connell, T. A., Aizawa, I., Mizoguchi, K., Honma, M., Ishikawa, G., Mitsuma, T., & Natsukari, N. (1994) · Annals of Neurology · doi:10.1002/ana.410360617 · Cited by 56 · see citing works
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- Kitchin, W., Cohen-Cole, S. A., & Mickel, S. F.
- Affiliations
- Massachusetts Institute of Technology (US)
- Corresponding author
- Kitchin, Winston
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 1987-11
- Volume
- 22
- Issue
- 11
- Pages
- 1375-1387
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2043201495
- Cited by
- 43
- References
- 2
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2022: 2 · 2021: 3 · 2020: 1 · 2018: 1 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 1 · 2012: 5
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- 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 › Neurology › Neurological diseases and metabolism
- Keywords
- adrenoleukodystrophy, psychiatric presentation, organic mental disorders, very long chain fatty acids, misdiagnosis, computerized axial tomography, brain involvement, neuropsychiatric symptoms
- MeSH terms
- Adrenoleukodystrophy, Diffuse Cerebral Sclerosis of Schilder, Diagnosis, Differential, Humans, Neurocognitive Disorders
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