The second day of the Indo German Metabolic Meet was an eye-opener regarding various inborn errors of metabolism. The day started with a presentation by Dr Anibh Das who is the head of the Metabolic Centre at Hannover Medical College, Germany. He spoke extensively about inborn errors of metabolism concerning the heart, Fabry disease, various lysosomal and mitochondrial disorders, their diagnosis and novel therapeutics available for treatment.
This was followed by a soulful narration of the story of a girl with an undiagnosed inborn error of metabolism. Dr Suchetha P Kumar, from the Department of Physiology, narrated the story in the voice of the patient who is a fourteen-year-old girl. It covered all the milestones she achieved beginning from birth till the present. The narrative was supported by stirring videos, charts and pictures. But the biggest highlight was the twist in the end. It was the narration of her own daughter’s story and now the entire scenario, for just a few seconds, became about the problems faced by the caretakers of those with IEM and the dismal response to therapy. She stressed on the agony that these disorders bring and the need for more research and discovery of therapy. The audience was left in deep anguish and some even had tears rolling down their cheeks. Seldom do we witness such strong presentations in medical conventions.
The third presentation was by Dr Chaitanya Datar of KEM Medical College, Pune. A prominent geneticist of the country, he presented an intensively curated talk on inborn errors of metabolism that can be treated by vitamin therapy. He gave examples of novel therapeutic prescriptions that have been discovered by his team where certain fatal or highly morbid inborn errors can be treated by mere supplementation or treatment with vitamins, biotinidase deficiency and homocystinuria to name a few. This was followed by a short tea break.
Even with boundless technological advances and increased understanding of the genetic code, the science of discerning mutations which lead to detrimental effects still remains in its formative years. Dr Anju Shukla of the Department of Medical Genetics, KMC Manipal, in her talk on the phenotypic and genetic heterogeneity in mitochondrial disorders illuminated how the work being done by doctors and researchers in our own backyard is leading to earlier detection and management of the rare cases that may present. Sharing real-life instances of such rare cases encountered, she emphasized how such cases can be detected and managed early on by screening which is as of yet not very prevalent in the country.
Dr Partha Dabke, an alumnus of KMC Manipal currently pursuing his PhD at Hannover Medical School, gave the second talk of the afternoon, after Dr Anju Shukla. Explaining inborn errors of metabolism as clinical vignettes by sharing cases he has encountered in his practice, he went on to show the distinct features of each case and how neonatal screening is an important tool in early detection and how management can be efficiently devised in such cases.
In the last talk of the afternoon before tea, Dr Chaitanya Datar, one of the most eminent geneticists in the country, spoke about the utility of genomic technologies such as new generation sequencing which has rendered the screening for inborn errors of metabolism much easier and made it more accessible to the masses. Explaining the mechanism of the technique, he elucidated how these have the potential of identifying inborn errors of metabolism before the onset of symptoms and hence lead to a better track of management of the condition.
Several delegates presented posters which were viewed over tea. The conference ended with a pleasurable cultural programme and dinner.
– Written by Vinay Reddy and Shrey Srivastava