Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases
Abstract
We report on two new patients with straight‐chain acyl‐coenzyme A oxidase deficiency. Early onset hypotonia, seizures and psychomotor delay were observed in both cases. Plasma very‐long‐chain fatty acids were abnormal in both patients, whereas the plasma levels of phytanic acid, pristanic acid, the bile acid intermediates DHCA and THCA, and erythrocyte plasmalogen levels were normal. Studies in fibroblasts from the two patients revealed a deficiency of one of the two peroxisomal acyl‐CoA oxidases, that is, straight‐chain acyl‐CoA oxidase (ACOX1). Subsequent molecular analysis of ACOX1 showed a homozygous deletion, which removes a large part of intron 3 and exons 4–14 in the first patient. Mutation analysis in the second patient revealed compound heterozygosity for two mutations, including: (1) a c.692 G > T (p.G231V) mutation and (2) skipping of exon 13 (c.1729_1935del (p.G577_E645del). © 2008 Wiley‐Liss, Inc.
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- Authors
- Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., Wanders, R. J. A., Jakobs, C., Bruno, C., Santorelli, F. M., Dionisi‐Vici, C., & Bonioli, E.
- Affiliations
- Bambino Gesù Children's Hospital (IT)
- Istituto Giannina Gaslini (IT)
- Casa Sollievo della Sofferenza (IT)
- Amsterdam UMC Location University of Amsterdam (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Corresponding author
- Wanders, Ronald J.A.
- Bonioli, Eugenio
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2008-06-05
- Volume
- 146A
- Issue
- 13
- Pages
- 1676-1681
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2157686899
- Cited by
- 40
- References
- 21
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 4 · 2023: 4 · 2022: 1 · 2021: 5 · 2020: 2 · 2019: 3 · 2018: 4 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- ACOX1, very long chain fatty acids, hypotonia, seizures, psychomotor delay, homozygous deletion, compound heterozygosity, phytanic acid, bile acid intermediates, plasmalogens
- MeSH terms
- Base Sequence, Brain, Child, Preschool, Consanguinity, DNA, Female, Genes, Recessive, Homozygote, Humans, Infant, Newborn, Magnetic Resonance Imaging, Pregnancy, Prenatal Diagnosis, Sequence Deletion, Peroxisomal Disorders, Peroxisomes, Acyl-CoA Oxidase
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