The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
Abstract
Sensory motor neuropathy is associated with various inherited disorders including Charcot-Marie-Tooth disease, X-linked adrenoleukodystrophy/adrenomyeloneuropathy and Refsum disease. In the latter two, the neuropathy is thought to result from the accumulation of specific fatty acids. We describe here three patients with elevated plasma concentrations of pristanic acid (a branched-chain fatty acid) and C27-bile-acid intermediates. Two of the patients suffered from adult-onset sensory motor neuropathy. One patient also had pigmentary retinopathy, suggesting Refsum disease, whereas the other patient had upper motor neuron signs in the legs, suggesting adrenomyeloneuropathy. The third patient was a child without neuropathy. In all three patients we discovered a deficiency of alpha-methylacyl-CoA racemase (AMACR). This enzyme is responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers, which are the only stereoisomers that can be degraded via peroxisomal beta-oxidation. Sequence analysis of AMACR cDNA from the patients identified two different mutations that are likely to cause disease, based on analysis in Escherichia coli. Our findings have implications for the diagnosis of adult-onset neuropathies of unknown aetiology.
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“Accordingly, pristanic acid and the bile acid intermediates DHCA and THCA, but not VLCFA, accumulate in AMACR-deficient patients (Fig. 1) [93].”
From Peroxisomes in brain development and function (2016) · cites this paper as [93]
Citations
Cites
Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene
Jansen, G. A., Oftnan, R., Ferdinandusse, S., IJlst, L., Muijsers, A. O., Skjeldal, O. H., Stokke, O., Jakobs, C., BESLEY, G. T. N., Wraith, J. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-190 · Cited by 306
Identification of PAHX, a Refsum disease gene
Mihalik, S. J., Morrell, J. C., Kim, D., Sacksteder, K. A., Watkins, P. A., & Gould, S. J. (1997) · Nature Genetics · doi:10.1038/ng1097-185 · Cited by 244
Rasmussen, J. T., Börchers, T., & Knudsen, J. (1990) · Biochemical Journal · doi:10.1042/bj2650849 · Cited by 196
IJlst, L., Wanders, R. J. A., Ushikubo, S., Kamijo, T., & Hashimoto, T. (1994) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(94)90064-7 · Cited by 158
Purification and Characterization of an alpha-Methylacyl-CoA Racemase from Human Liver
Schmitz, W., Albers, C., Fingerhut, R., & Conzelmann, E. (1995) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1995.tb20766.x · Cited by 124
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
Dubois-Dalcq, M., Feigenbaum, V., & Aubourg, P. (1999) · Trends in Neurosciences · doi:10.1016/s0166-2236(98)01319-8 · Cited by 121
Purification and properties of an α‐methylacyl‐CoA racemase from rat liver
Schmitz, W., Fingerhut, R., & Conzelmann, E. (1994) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1994.tb18870.x · Cited by 116
Vreken, P., van Lint, A. E. M., Bootsma, A. H., Overmars, H., Wanders, R. J. A., & Gennip, A. H. (1998) · Journal of Chromatography B Biomedical Sciences and Applications · doi:10.1016/s0378-4347(98)00186-8 · Cited by 99
Measurement of peroxisomal fatty acid β‐oxidation in cultured human skin fibroblasts
Wanders, R. J. A., Denis, S. W., Ruiter, J. P. N., Schutgens, R. B. H., van Roermund, C. W. T., & Jacobs, B. S. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711434 · Cited by 95
Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders
Moser, A. B., Jones, D. S., Raymond, G. V., & Moser, H. W. (1999) · Neurochemical Research · doi:10.1023/a:1022549618333 · Cited by 92
Research works printed but not linked: 1
- Steinberg, D. Refsum disease. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2351–2369 (McGraw-Hill, New York, 1995).
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The Enzymes, Regulation, and Genetics of Bile Acid Synthesis
Russell, D. W. (2003) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.72.121801.161712 · Cited by 2,069
Biochemistry of mammalian peroxisomes revisited
Wanders, R. J. A., & Waterham, H. R. (2006) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.74.082803.133329 · Cited by 995
Self-citationBile acids: Chemistry, physiology, and pathophysiology
Monte, M. J., Marı́n, J. J. G., Antelo, Á., & Tato, J. V. (2009) · World Journal of Gastroenterology · doi:10.3748/wjg.15.804 · Cited by 588
Peroxisomal β-oxidation—A metabolic pathway with multiple functions
Poirier, Y., Antonenkov, V. D., Glumoff, T., & Hiltunen, J. K. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.034 · Cited by 497
Human disorders of peroxisome metabolism and biogenesis
Waterham, H. R., Ferdinandusse, S., & Wanders, R. J. A. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.11.015 · Cited by 384
Metadata
- Authors
- Ferdinandusse, S., Denis, S., Clayton, P. T., Graham, A., Rees, J. E., Allen, J. T., McLean, B. N., Brown, A. Y., Vreken, P., Waterham, H. R., & Wanders, R. J. A.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Princess Royal Hospital (GB)
- Southmead Hospital (GB)
- Royal Cornwall Hospital (GB)
- Corresponding author
- Wanders, Ronald J.A.
- Venue
- Nature Genetics
- Published
- 2000-02
- Volume
- 24
- Issue
- 2
- Pages
- 188-191
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1971365801
- Cited by
- 262
- References
- 23
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 13 · 2023: 6 · 2022: 6 · 2021: 8 · 2020: 11 · 2019: 5 · 2018: 10 · 2017: 10 · 2016: 6 · 2015: 6 · 2014: 14 · 2013: 13 · 2012: 9
- FWCI
- 4.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- AMACR, Refsum disease, adrenomyeloneuropathy, pristanic acid, branched-chain fatty acids, peroxisomal beta-oxidation, pigmentary retinopathy, Charcot-Marie-Tooth disease, upper motor neuron signs, peroxisomal disorders
- MeSH terms
- Adult, Amino Acid Sequence, Animals, Cloning, Molecular, Escherichia coli, Female, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Recombinant Proteins, Hereditary Sensory and Motor Neuropathy, Sequence Alignment, Point Mutation, Sequence Homology, Amino Acid, Age of Onset, Amino Acid Substitution, Racemases and Epimerases, Peroxisomes, Mice, Rats
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