ArticleJournal of inherited metabolic disease2014
Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- First reported case of adult-onset very long-chain acyl-coa dehydrogenase (vlcad) deficiency in Vietnam: a rare metabolic myopathy.Molecular genetics and metabolism reports · 2026Article
- PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.BMC medical genomics · 2025Review
- Carnitine Palmitoyltransferase II (CPT2) Deficiency in a Patient With Recurrent Rhabdomyolysis: A Case Report.Cureus · 2024Article
- Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).Clinical & translational immunology · 2021Article
- Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).European journal of neurology · 2020Article
- Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.Molecules (Basel, Switzerland) · 2020Review
- Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids.Frontiers in genetics · 2020Review
- Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.Human molecular genetics · 2019Article
- Lipid Myopathies.Journal of clinical medicine · 2018Review
- Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.Journal of medical case reports · 2018Article
- Cryo-EM structure of human mitochondrial trifunctional protein.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.Journal of human genetics · 2017Article
- Pathophysiological Concepts and Treatment of Camptocormia.Journal of Parkinson's disease · 2016Review
- Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.PloS one · 2016Article
- Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.Bioscience reports · 2015Review
- MRI of lumbar trunk muscles in patients with Parkinson's disease and camptocormia.Journal of neurology · 2015Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMuscle magnetic resonance imaging (MRI) is a useful tool for visualizing abnormalities in neuromuscular disorders. The value of muscle MRI has not been studied in long-chain fatty acid oxidation (lcFAO) disorders. LcFAO disorders may present with metabolic myopathy including episodic rhabdomyolysis.
objectiveTo investigate whether lcFAO disorders are associated with muscle MRI abnormalities.
methodsLower body MRI was performed in 20 patients with lcFAO disorders, i.e. three carnitine palmitoyltransferase 2 deficiency (CPT2D), 12 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), three mitochondrial trifunctional protein deficiency (MTPD) and two isolated long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
resultsAt the time of MRI, four patients had muscle weakness, 14 had muscle pain and 13 were exercise intolerant. Median creatine kinase (CK) level of patients at the day of MRI was 398 U/L (range 35-12,483). T1W and STIR signal intensity (SI) were markedly increased in MTPD patients from girdle to lower leg. VLCADD patients showed predominantly proximal T1W SI changes, whereas LCHADD patients mostly showed distal T1W SI changes. Prominent STIR weighted signal intensity increases of almost all muscle groups were observed in patients with VLCADD and LCHADD with very high CK (>11.000) levels. CONCLUSIONS AND RELEVANCE: lcFAO disorders are associated with specific patterns of increased T1W and STIR signal intensity. These patterns may reflect lipid accumulation and inflammation secondary to lcFAO defects and progressive muscle damage. Future studies are needed to investigate whether muscle MRI might be a useful tool to monitor disease course and to study pathogenesis of lcFAO related myopathy.
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