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An Inherited Metabolic Disorder Presenting as Ethylene Glycol Intoxication in a Young Adult

 

作者: Karen Pien,   Bruno van Vlem,   Rudy van Coster,   Georges Dacremont,   Michel Piette,  

 

期刊: The American Journal of Forensic Medicine and Pathology  (OVID Available online 2002)
卷期: Volume 23, issue 1  

页码: 96-100

 

ISSN:0195-7910

 

年代: 2002

 

出版商: OVID

 

关键词: Glycolic acid;Ethylene glycol;Inborn error of metabolism;Young adult;Forensic implications

 

数据来源: OVID

 

摘要:

Despite the abundance of reports emerging in the literature on metabolic disorders, some disorders remain undiagnosed or misdiagnosed, not only in clinical pathology but also in forensic pathology. The authors report a patient who had recurrent episodes characterized by nausea, vomiting, and signs of dehydration necessitating admission to the hospital. At each admission, he was found to have lactic acidosis. On the first admission, glycolic acid was detected in his blood and he was diagnosed as having ethylene glycol intoxication. Only at the third admission, 2 years after the first, was the possibility of an underlying metabolic disorder considered. Laboratory investigations showed a deficiency of complex I in the mitochondrial oxidative phosphorylation. Possible medicolegal implications are discussed.

 

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