Jaipur, September 20, 2024.

The three-daynational conference on Inborn Errors of Metabolism ‘ISIEM 2024’  was inaugurated at Rajasthan International Centre in Jaipur on Friday. The welcome address was delivered by Dr Priyanshu Mathur and Dr Seema Kapoor gave the presidential speech. Dr Kapoor also delivered the keynote lecture – Biomarkers – Not everything worthwhile can be measured and not everything measured is worthwhile.

The first day of the conference witnessed workshops including sessions on introduction to Genetic Metabolic Disorders, Newborn Screening and Basics of IEMs: How to recognise and diagnose. Various experts from the field of inborn errors of metabolism and rare diseases addressed these workshops.

Indian Society for Inborn Errors of Metabolism secretary Dr Sunita Bijarnia said that this three-day conference will create awareness among the doctor fraternity. The message to people is that there is treatment available for rare diseases and IEMs and people should come to the experts instead of leaving the fate of children on God. “We are also focussing on training the doctors to recognise and diagnose these diseases and building infrastructure for the same,” she added.

Lt. Col. Dr Aradhana Dwivedi, Medical Geneticist with Army Hospital said that although genetic/rare diseases is said to be 1 in 1000 children, but in India the number is high due to large population and high birth rate.

She said that there are three categories of IEMs including small molecule, complex molecule metabolic disorders and enzyme deficiency disorders. Explaining further Dr Dwivedi said that in small molecule disorder for example amino acid disorder in which the baby after the birth appears fine, but  after 3-4 days there is accumulation of toxics due to enzyme defect and the newborn starts vomiting, gets seizures and go into coma leading to death if not treated on time.

Similarly, in complex molecule metabolic disorders, the lysosomal disorder can take place that affects multiple system resulting in slow growth. In enzyme deficiency, the patient has glycogen storage disorder.

Dr Dwivedi said that these disorders are to be found out through screening of newborn and doing diagnostic tests. The newborn screening test is available only in a few big cities and uniform testing is not done as ICMR guidelines have not come for metabolic disorders. A few states are doing these tests at their level. On finding any disorder in newborn screening, diagnostic test is done through dried blood spot and final confirmation is done through genetic testing, she added.

Conference organising secretary Dr Priyanshu Mathur said that a Rare Disease Clinic is being run at present in JK Lone hospital in Jaipur, where clinical and basic tests are done. The state government in the budget announcement has announced of setting up a Centre of Excellence for Medical Genetics at JK Lone hospital. Around 100-150 children suffering from rare diseases and IEMs come to the rare disease clinic every month.