If a person does not have enough of one of these enzymes, the body cannot break down the fat or carbohydrate targeted by enzymes for recycling. These fats or sugars accumulate in cell lysosomes where enzymes are active, disrupting normal function and causing lysosomal storage disorders.
Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet. 2019 Feb 14;20(1):31.READ MORE
We are delighted to invite all the participants over the globe to attend the 4th World Congress on Rare Disease and Orphan Drugs, which will be held during August 19-20, 2020 at Frankfurt, Germany. “Rare Diseases Meetings 2020 conference is to assemble professors, scientists and researchers related to diagnosis of Rare or Orphan diseases, READ MORE
Mistri M, Mehta S, Solanki D, Kamate M, Gupta N, Kabra M, Puri R, Girisha K, Hariharan S, Nampoothiri S, Sheth F, Sheth J. Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India. J Hum Genet. 2019 Oct;64(10).
The supplemental newborn screening study is a research project that identifies several metabolic disorders. These metabolic disorders are not currently a part of the mandatory routine screening that every baby receives while at the hospital. Participation in the supplemental newborn screening study is voluntary. In the hospital, you will be asked to sign a consent form to let the hospital staff know whether or not you want your baby to participate.
Agreeing to participate means that the blood sample already taken for the mandatory routine screening will be tested for more disorders. If you participate, there is no additional cost to you, and it does not require taking any more blood from your baby...Read More
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...