Journal of Genetics and Genomes

Department of Environmental Health, University of Cincinnati, Cincinnati, Ohio, USA

Publications

• Mini Review   
  The Under Diagnosis of Inborn Errors of Metabolism in Adults
  Author(s): June Peters*
  
  Inborn Errors of Metabolism (IEMs) constitute a set of rare genetic disorders that disrupt the body's normal chemical processes. Though these conditions have traditionally been linked to pediatric patients, there is a mounting body of evidence indicating that they are significantly underdiagnosed in the adult population. This article delves into the issue of underdiagnosis, focusing on a notable revelation: in one adult genetics clinic, biochemical testing resulted in a diagnostic rate of merely 10%. This finding underscores the pressing need for heightened awareness, improved diagnostic techniques and a deeper understanding of IEMs in adults. Historically, inborn errors of metabolism have primarily been associated with childhood due to the emergence of severe symptoms at a young age. However, both research and clinical experiences are increasingly suggesting t.. Read More»
  DOI: 10.37421/2684-4567.2023.7.88

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