One in every 1,000 newborns has Inborn Errors of Metabolism (IEM) or other disorders that can be detected at birth by screening. Inborn errors of metabolism, often referred to as congenital metabolic diseases or inherited metabolic disorders are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
A food product that is not broken down into energy can build up in the body and cause a wide range of symptoms. If not controlled, several inborn errors of metabolism cause developmental delays or other medical problems. Some of the inborn errors of metabolism include fructose intolerance, galactosemia, maple sugar urine disease (MSUD), phenylketonuria (PKU), etc.
Newborn screening tests can identify some of these disorders. Registered dietitians and other healthcare providers can help create a diet that is right for each specific disorder. However, the government is yet to have a mandatory screening program for newborn babies for IEM disorders. The awareness is limited among the parents as well. Further, the tests are expensive and the medicines are not readily available for treatment.
To spread awareness about these errors of metabolism, the Division of Genetics, Department of Pediatrics, AIIMS and IEM Support Charitable Trust, Delhi, is organizing a panel discussion today at AIIMS. Participats include Dr. Madhulika Kabra and Dr. Neerja Gupta of Division of Genetics, Department of Pediatrics, AIIMS, Dr. Seema Kapoor of Division of Genetics, Department of Pediatrics, LNJP hospital. MERD India Foundation, IEM Support Charitable Trust, etc.