ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

• Published in: Genes
• Main Authors: Matthias Christen, Jos Bongers, Déborah Mathis, Vidhya Jagannathan, Rodrigo Gutierrez Quintana, Tosso Leeb
• Format: Article in Journal/Newspaper
• Language: English
• Published: MDPI AG 2022
• Subjects: Canis lupus familiaris; dog; neurology; metabolism; fatty acid disorder; seizure; Genetics; QH426-470; Cavalier; Canis lupus
• Online Access: https://doi.org/10.3390/genes13101847; https://doaj.org/article/7d0787eedc8f4bcdbda649660d9e16e3

A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-...