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 ...

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 ...

Behind every unexplained medical condition is a patient hoping for clarity and understanding. For people with suspected inborn errors of immunity (IEIs), genetic testing can facilitate individually ...

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 ...

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 ...

Advances in analytical biochemistry have recently made it possible to obtain global snapshots of metabolism. A new study couples such technology with genome-wide genetic analysis to explore inherited ...

In a study of seven children with profound immunodeficiency, an international consortium of researchers has discovered a T95R mutation in the gene for interferon regulatory factor 4. IRF4 is a ...