The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India

Abstract

Lysosomal storage disorders are a group of rare, genetically inherited metabolic disorders. Because the literature on epidemiologic data is scanty from India, we attempted to determine their relative frequency and regional distribution. Our retrospective study included 1558 patients with clinical suspicion of various lysosomal storage disorders referred to Sandor Lifesciences Pvt Ltd during 2007 to 2012. About 30% of the cases were tested positive, with sphingolipidoses as the most common subgroup, followed by mucopolysaccharidoses, and Gaucher disease as the most frequently occurring individual lysosomal storage disorder. Our data indicates that lysosomal storage disorders are more common in males than females and infants comprise the most common age group followed by juvenile. The burden of these disorders is predicted to be high in India because of the large population, coupled with the practice of consanguineous marriages. This study emphasizes the importance of epidemiologic studies in order to implement appropriate preventive measures.

Keywords: inborn errors of metabolism; lysosomal storage disorders; mucopolysaccharidoses; prevalence; sphingolipidoses.