What are inborn errors of metabolism? Inborn errors of metabolism are primarily associated with the improper digestion of food items and defects in the storage of carbohydrates, fatty acids, and ...

Inborn metabolic disorders are a group of conditions that occur due to problems with metabolism. The term “metabolism” refers to biochemical reactions that are necessary to support good health. These ...

We accept that some people are born with a talent for music or art or athletics. But what about mathematics? Do some of us just arrive in the world with better math skills than others? Research ...

Inborn errors of immunity, historically termed primary immunodeficiency disorders, encompass a diverse group of heritable conditions that compromise innate and adaptive immune function. These ...

Q: Which doctor should I consult for inborn errors of metabolism? A: If you are concerned about yourself or a family member having an inborn error of metabolism, you ...

The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare inborn errors of metabolism, but the efficacy and outcomes of screening remain ...