Stephen I. Deutsch , David R. Spiegel , Jessica A. Burket
{"title":"铜稳态紊乱:自闭症谱系障碍的致病因素及丙戊酸的副作用","authors":"Stephen I. Deutsch , David R. Spiegel , Jessica A. Burket","doi":"10.1016/j.pmip.2021.100087","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":19837,"journal":{"name":"Personalized Medicine in Psychiatry","volume":"29 ","pages":"Article 100087"},"PeriodicalIF":0.0000,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.pmip.2021.100087","citationCount":"2","resultStr":"{\"title\":\"Disrupted copper homeostasis: Pathogenic factor in autism spectrum disorder and side effect of valproic acid\",\"authors\":\"Stephen I. Deutsch , David R. Spiegel , Jessica A. Burket\",\"doi\":\"10.1016/j.pmip.2021.100087\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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.</p></div>\",\"PeriodicalId\":19837,\"journal\":{\"name\":\"Personalized Medicine in Psychiatry\",\"volume\":\"29 \",\"pages\":\"Article 100087\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.pmip.2021.100087\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized Medicine in Psychiatry\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2468171721000193\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized Medicine in Psychiatry","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2468171721000193","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Disrupted copper homeostasis: Pathogenic factor in autism spectrum disorder and side effect of valproic acid
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.