AI Article Synopsis
- Advances in bioanalytical technologies, like high throughput sequencing, have significantly increased the identification of inborn errors of metabolism (IEM), now totaling over 1800.
- These technologies help reduce the time it takes to diagnose rare diseases, though their effectiveness in guiding treatment is still limited.
- The field of metabolic medicine emphasizes patient-centered care and has implemented newborn screening due to the treatable nature of conditions like phenylketonuria (PKU).
Article Abstract
Advances in bioanalytical technologies such as high throughput sequencing have paved the way for an exponential increase in the discovery of inborn errors of metabolism (IEM), which now sum up to more than 1800 IEM. These powerful technologies play a decisive role in shortening the diagnostic odyssey of patients affected by rare diseases. Yet, their added value in guiding therapy is still limited. Metabolic medicine remains a growing discipline that is particularly dependent on specialized laboratory analyses and has adopted early on the fundamental concept of a patient-centered care approach. The discovery of phenylketonuria (PKU) as a treatable cause of mental retardation has hence led to the implementation of newborn screening. With this example, we highlight some key concepts in caring for patients affected by IEM.
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| http://dx.doi.org/10.53738/REVMED.2023.19.815.358 | DOI Listing |
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