Lysosomal storage disorders (LSDs) are considered to be a rare
metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having
coarse facial features,
hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar
atrophy, and abnormal ophthalmic findings. All subjects were screened for
I-cell disease,
glycolipid storage disorders (
Niemann-Pick disease A/B, Gaucher), and mucopolysaccharide disorders followed by confirmatory lysosomal
enzymes study from leucocytes and/or fibroblasts.
Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using
filipin stain. Various storage disorders were detected in 387 children (34.8 %) with highest prevalence of
glycolipid storage disorders in 48 %, followed by mucopolysaccharide disorders in 22 % and defective
sulfatide degradation in 14 % of the children. Less common defects were
glycogen degradation defect and protein degradation defect in 5 % each, lysosomal trafficking
protein defect in 4 %, and transport defect in 3 % of the patients. This study demonstrates higher incidence of
Gaucher disease (16 %) followed by
GM2 gangliosidosis that includes
Tay-Sachs disease (10 %) and
Sandhoff disease (7.8 %) and mucopolysaccharide disorders among all LSDs. Nearly 30 % of the affected children were born to consanguineous parents and this was higher (72 %) in children with
Batten disease. Our study also demonstrates two common mutations c.1277_1278insTATC in 14.28 % (4/28) and c.964G>T (p.D322Y) in 10.7 % (3/28) for
Tay-Sachs disease in addition to the earlier reported c.1385A>T (p.E462V) mutation in 21.42 % (6/28).