Identification of female carriers of adrenoleukodystrophy
Abstract
The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.
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This is slightly better than the previously published rate of 15% false-negative test results in females due to the heterozygosity of ABCD1 in females.
“This is slightly better than the previously published rate of 15% false-negative test results in females22 due to the heterozygosity of ABCD1 in females.”
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 [22]
Measurement of VLCFA can only detect about 85% of heterozygous female carriers.
“While the measurement of total C26:0 is highly specific in male patients (100%), measurement of VLCFA can only detect about 85% of heterozygous female carriers22.”
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 [22]
The measurement of total C26:0 is highly specific in male patients (100%).
“While the measurement of total C26:0 is highly specific in male patients (100%), measurement of VLCFA can only detect about 85% of heterozygous female carriers22.”
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 [22]
Cited by
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Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
Self-citationX-linked adrenoleukodystrophy in women: A cross-sectional cohort study
Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., et al. (2014) · Brain · doi:10.1093/brain/awt361 · Cited by 234 · see citing works
Rattay, T. W., Rautenberg, M., Söhn, A. S., Hengel, H., Traschütz, A., Röben, B., Hayer, S. N., Schüle, R., Wiethoff, S., Zeltner, L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-71248-8 · Cited by 61 · see citing works
Dvoráková, L., Štorkánová, G., Unterrainer, G., Hujová, J., Kmoch, S., Zeman, J., Hrebícek, M., & Berger, J. (2001) · Human Mutation · doi:10.1002/humu.1149 · Cited by 23 · see citing works
Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment
Watkins, P. A., Naidu, S., & Moser, H. W. (1987) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01812846 · Cited by 20 · see citing works
Self-citation
- Authors
- Moser, H. W., Moser, A. E., Trojak, J. E., & Supplee, S. W.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Moser, Hugo W.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 1983-07
- Volume
- 103
- Issue
- 1
- Pages
- 54-59
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2012938428
- Cited by
- 99
- References
- 0
- Citations by year
- 2022: 1 · 2021: 1 · 2020: 2 · 2016: 1 · 2014: 2 · 2013: 3 · 2012: 1
- FWCI
- 4.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Pediatrics (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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- adrenoleukodystrophy, female carriers, obligate heterozygotes, X-linked inheritance, very long chain fatty acids, plasma fatty acid concentrations, dermal fibroblasts, carrier detection, discriminant analysis
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Aged, Diffuse Cerebral Sclerosis of Schilder, Child, Child, Preschool, Fatty Acids, Female, Fibroblasts, Heterozygote, Humans, Middle Aged, Skin
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