X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients
Open accessAbstract
Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. We investigated 15 male X-ALD patients varying in age from 7 to 39, diagnosed among 108 suspected patients referred for investigation. Plasma levels of very long chain fatty acids (VLCFA) were measured at our laboratory using gas chromatography (GC). Eleven cases of childhood X-ALD and four cases of adrenomyeloneuropathy (AMN) were diagnosed. Adrenal leukodystrophy insufficiency and limb weakness were the most frequent symptoms, appearing in 12, 8 and 6 of the patients, respectively. Physician awareness of X-ALD seems inadequate to judge by age at diagnosis and lengthy interval between the start of symptoms and diagnosis. This is the first published series of Brazilian patients with X-ALD. We determined signs and symptoms relevant for diagnosis, as early identification seems important for treatment outcome. In addition, diagnosis identifies carriers, who could benefit from genetic counselling and prenatal diagnosis.
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The risk of developing cerebral disease is highest in childhood but remains present throughout life.
“The risk of developing cerebral disease is highest in childhood but remains present throughout life.1,29,33-39”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [37]
The Introduction (page unavailable) says childhood X-ALD usually develops symptoms at ages four to eight, including demyelination and leukodystrophy. The Results and Discussion table (page unavailable) reports leukodystrophy in 10 of 11 childhood X-ALD patients and 2 of 4 adult-onset AMN patients. This supports cerebral involvement in childhood and adulthood, but the small case series does not establish that the risk is highest in childhood or persists throughout life. (LLM, conf=0.82)
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References 16 · Cited by 6
Research works printed but not linked: 3
- Moser, H.W. and Moser, A.B. (1991). Measurement of saturated very long chain fatty acid in plasma. In: Techniques in Diagnostics Human Bio- chemical Genetics (Hommes, F.A., ed.). Wiley-Liss, New York, 177- 191.
- Wanders, R.J.A., Schutgens, R.B.H. and Barth, P.G. (1995). Peroxisomal disorders: a review. J. Neuropathol. Exp. Neurol. 17: 726-739.
- Wanders, R.J.A., Schutgens, R.B.H. and Barth, P.G. (1996). Peroxisomal disorders. In: Physician's Guide to the Laboratory Diagnosis of Meta- bolic Diseases (Blau, N., Duran, M. and Blaskovics, M.E., eds.). Chapman & Hall Medical, London, pp. 359-376. (Received February 21, 2000)
- Authors
- Vargas, C. R., Coelho, D. D. M., Barschak, A. G., Souza, C. F. M. D., Puga, A. C. S., Schwartz, I. V. D., Jardim, L., & Giugliani, R.
- Affiliations
- Hospital de Clínicas de Porto Alegre (BR)
- Universidade Federal do Rio Grande do Sul (BR)
- ORCID
- Venue
- Genetics and Molecular Biology
- Publisher
- FapUNIFESP (SciELO)
- Published
- 2000-06
- Volume
- 23
- Issue
- 2
- Pages
- 261-264
- ISSN
- 1415-4757 (ISSN-L)
- OpenAlex
- W2050194209
- Cited by
- 6
- References
- 16
- Citations by year
- 2022: 1 · 2020: 2 · 2019: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc
- Locations
- Genetics and Molecular Biology (publishedVersion, cc-by-nc)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
- Americanae (AECID Library) (submittedVersion, cc-by-nc)
- Americanae (AECID Library) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Lume (Universidade Federal do Rio Grande do Sul) (submittedVersion, other-oa)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, cc-by-nc-sa)
- Funders
- Universiteit van Amsterdam
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Hospital de Clínicas de Porto Alegre
- Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul
- Universidade Federal do Rio Grande do Sul
- Fundação Instituto de Pesquisas Econômicas
- 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
- X-linked adrenoleukodystrophy, very long chain fatty acids, adrenomyeloneuropathy, peroxisomal disorders, white matter demyelination, adrenal insufficiency, limb weakness, age at diagnosis, carrier identification, genetic counseling, prenatal diagnosis, Brazilian patients
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