Jornal de Genética e Genomas

The Under Diagnosis of Inborn Errors of Metabolism in Adults

Abstract

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 that numerous adults may unknowingly be living with undiagnosed IEMs. These disorders can exhibit a wide spectrum of symptoms, rendering their identification in the adult population a challenging task. Moreover, these symptoms frequently overlap with more common conditions, further complicating the diagnostic process.