Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
AMACR deficiency can be considered as an adult slowly progressive disease with a predominant neurological phenotype. The main signs comprise retinitis pigmentosa, neuropathy, ataxia and cognitive decline; stroke-like episodes may occur. Recognition of typical MRI abnormalities may facilitate prompt diagnosis. In addition, there is a risk of liver fibrosis/cirrhosis and hepatocellular carcinoma in these patients, requiring active monitoring.
Authors
- Femke C. C. Klouwer (ORCID: https://orcid.org/0000-0002-8552-8837)
- Carla E. M. Hollak (ORCID: https://orcid.org/0000-0003-0464-1078)
- Mirjam Langeveld (ORCID: https://orcid.org/0000-0002-9934-6831)
- Marc Engelen (ORCID: https://orcid.org/0000-0002-5346-8497)
- Stefan D. Roosendaal (ORCID: https://orcid.org/0000-0002-3763-4774)
- Marjo S. van der Knaap (ORCID: https://orcid.org/0000-0001-8912-0954)
- Bwee Tien Poll‐The (ORCID: https://orcid.org/0000-0002-8118-5419)
- Nicole I. Wolf (ORCID: https://orcid.org/0000-0003-0830-4626)
- Arlette J. van Sorge
Institutions
- Amsterdam Neuroscience (NL)
- Amsterdam University Medical Centers (NL)
- Vrije Universiteit Amsterdam (NL)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-23
- DOI
- https://doi.org/10.1186/s13023-024-03358-9
- Citations
- 6
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.29