Very long chain CoA dehydrogenase deficiency
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Very long chain CoA dehydrogenase deficiency. This is caused by mutations in the ACADVL gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ACADVL gene
Classification
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Severe childhood form: features
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Mild childhood form: features
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Adult form: features
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Muscle biopsy: features
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Other investigations
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Management issues
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Treatment
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Investigational drugs
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References
- Liang WC, Nishino I. State of the art in muscle lipid diseases. Acta Myologica 2010; 29:351-356.
- Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 1999; 64:479-494.
- Singh P, Amaro D, Obi O, et al. Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death. JIMD Rep 2023; 64:261-264.
- Olsson D, Barbaro M, Haglind C, et al. Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics. JIMD Rep 2022; 63:181-190.
- Yuasa H, Onoda Y, Kitaura A, Mino T, Tsukimoto S, Nakao S. Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency. JA Clin Rep 2020; 6:72.
