28th February is Rare Disease Day. This guest blog has been written by Nikki Jahnke and John Walter for the IEM team at the Cochrane Cystic Fibrosis and Genetic Disorders Group.
Rare Disease Day gives us an opportunity to highlight the area of inborn errors of metabolism, or IEMs for short. These cover a wide range of genetic disorders which are relatively rare but can be an important cause of illness and death in young babies if not diagnosed and treated in the first few weeks of life. A study in Canada by Applegarth estimated a total of 40 cases of any IEM in every 100,000 live births, a more recent Italian study found a similar rate. Continue reading