Peroxisomal acyl-CoA oxidase deficiency Overview Peroxisomal acyl-CoA oxidase deficiency is a rare inherited disorder that causes severe neurodegeneration, weak muscle tone, and seizures starting in infancy. Caused by mutations in the \(ACOX1\) gene, it leads to a toxic accumulation of very long-chain fatty acids and is typically fatal in early childhood. Symptoms Peroxisomal acyl-CoA oxidase deficiency is a rare, inherited neurodegenerative disorder. It primarily presents in infancy with weak muscle tone (hypotonia), recurrent seizures, and distinctive facial features (such as widely spaced eyes and a low nasal bridge). While some developmental milestones are initially achieved, a devastating loss of skills typically follows. A structured breakdown of the symptoms includes: Early / Neonatal Symptoms (From Birth) Neurological: Severe neonatal hypotonia (weak muscle tone) and neonatal seizures. Facial Dysmorphism: Distinct features like a depressed/low nasal bridge, widely spaced eyes ...