The Network is a group of specialist laboratories providing tests for the diagnosis and management of patients with Lysosomal Storage disorders in India. The group comprises both public and private health professionals dedicated to evolution of biochemical and molecular genetic testing in India. The idea is to form centers of excellence in individual diseases without overlap so that mutual growth can be accompalished.. This study is funded completely by the Department Of Health Research.
The Network was formed in October 2012 with funding from Indian Council of Medical Research. The group activities however started in February 2015 after financial Aid. This has seen light under able guidance of Professor IC Verma, Dr. H. Sharat Chandra, Dr. PP. Reddy and Dr. RM. Pandey.
Dr. Vjay Kumar Head, Division of BMS and Dr Roli Mathur from ICMR are the key persons for organization and coordination of the entire group. However activities of the e- Network are co-ordinated by a Scientist - Dr. Seema Kapoor at Lok Nayak Hospital affiliated to Maulana Azad Medical College, New Delhi (helpdesk @icmrmetbionetindia.org) with support from our administrators Ms Esha Juneja from MAMC.
The Network has an assay directory to source laboratory testing services in the India for specialist enzymes and genes for Lysosomal Storage disorders. One tab also indicates the Activities done by the Task Force of Inherited Metabolic Disorders. Comments/suggest
Lysosomal storage disorders (LSD) result from the inherited deficiency of 1 or more of the mostly catabolic enzymes that are located within the Lysosome. Their prevalence in India is yet unknown. As a group, LSDs occur in approximately one in 5000 live births. However, the treatable disorders are extremely rare and have incidence ranging from 1 in 40,000 to 1 in 100,000 births (1) .
If the above data is extrapolated ,in India, every year, around 500 babies born every year are likely to be affected by treatable LSDs where as approximately 3000 new cases of LSD are born every year . The number actually diagnosed with an LSD would be much lesser, as a significant proportion may not come to light owing to poor index of suspicion amongst our medical fraternity, poor diagnostic facilities. So it may be reasonable to assume that approximately 100 such patients may be added to the pool every year. Even the global data reflect that around 10,000 patients are currently receiving enzyme replacement therapy. In Delhi, 3-5 babies born every year are expected to be diagnosed with treatable LSDs.
Accurate diagnosis is imperative for genetic counseling for future pregnancies because most of the LSD?s are autosomal recessively inherited. With the development of new treatments for several of the LSD?s, the diagnostic requirements are also changing. The efficiency of many of the proposed treatments relies heavily on early detection and initiation of treatment before onset of irreversible pathology.
Although many of the clinical presentations of different LSD?s primarily result from substrate storage, these presentations vary greatly depending upon type, quantity and site of the accumulated storage material. Because there is an overlap of clinical features in many of the LSD?s it is difficult to establish a diagnosis solely based on clinical presentation. There is paucity of centers geared up to diagnose these disorders, difficulties in transport of blood samples, duplicity of efforts and absence of a clearcut defined group motivated to look into these largely heterogeneous group of disorders, hence the NTF- LSD group would attempt to look into the various aspects of LSD?s.