Very long chain CoA dehydrogenase deficiency
Evidence-based neurology checklist on very long chain coa dehydrogenase deficiency: Genetics This is caused by mutations in the ACADVL gene Classification Severe childhood form: features Mild childhood form: features Adult form: features Muscle biopsy: features Other investigations Management…
Genetics
- This is caused by mutations in the ACADVL gene
Classification
Severe childhood form: features
Mild childhood form: features
Adult form: features
Muscle biopsy: features
Other investigations
Management issues
Treatment
Investigational drugs
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.
