Disrupted copper homeostasis: Pathogenic factor in autism spectrum disorder and side effect of valproic acid

Abstract

A 23 year old male diagnosed with autism spectrum disorder and treated with valproic acid presented with acute onset of hepatic failure; he died less than two months later. Laboratory studies led to a diagnosis of Wilson Disease. The case raised questions about a possible pathogenic role of disrupted copper homeostasis in ASD, and exacerbation of this disruption as a result of treatment with valproic acid. Screening for abnormalities of copper homeostasis may stimulate strategies for therapeutic targeting of a contributing etiological factor and avoidance of contraindicated medications.