Sr No Name of Institute Name of Co-ordinator
Lysosomal storage Disease Enzyme GENE
1 All India Institute of Medical Sciences,New Delhi Dr Madhulika Kabra






Dr Madhulika Kabra
1 MPSI Hurler Syndrome α-L-IDURONIDASE IDUA



Dr Madhulika Kabra
2 Sanfilippo syndrome Type A/MPS III A HEPARAN SULPHAMIDASE SGSH



Dr Madhulika Kabra
3 Sanfilippo syndrome Type B/MPS III B N-ACETYL GLUCOSAMINIDASE NAGLU



Dr Madhulika Kabra
4 Sanfilippo syndrome Type C/MPS III C ACETYL COA:α-GLUCOSAMINIDE ACETYL TRANSFERASE HGSNAT



Dr Madhulika Kabra
5 Sanfilippo syndrome Type D/MPS III D N-ACETYL GLUCOSAMINE-6-SULFATASE GNS



Dr Madhulika Kabra
6 Fucosidosis α-L-Fucosidase FUCA1
2 Sir Ganga Ram Hospital, New Delhi Dr Ratna Dua Puri






Dr Ratna Dua Puri
1 Pompe disease/Glycogen storage disease type II acid alpha-glucosidase GAA



Dr Ratna Dua Puri
2 Multiple sulfatase deficiency Sulfatase-modifying factor-1 SUMF1



Dr Ratna Dua Puri
3 Infantile onset NCL Palmitoyl-protein thioesterase 1 PPT1



Dr Ratna Dua Puri
4 Late infantile onset NCL Tripeptidyl-peptidase 1 TPP1



Dr Ratna Dua Puri
5 Aspartylglucosaminuria N-aspartylglucosaminidase AGA
3 Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow Dr Shubha R Phadke






Dr Shubha R Phadke
1 Fabry disease α-galactosidase GLA



Dr Shubha R Phadke
2 MPS II Hunter syndrome IDURONATE-2- SULFATASE IDS



Dr Shubha R Phadke
3 Schindler disease N-Acetyl galactosaminidase α-NAGA



Dr Shubha R Phadke
4 Pycnodysostosis Cathepsin K CTSK



Dr Shubha R Phadke
5 Wolman disease Lysosomal acid lipase LIPA
4 Maulana Azad Institute of Medical Sciences, New Delhi Dr Seema Kapoor






Dr Seema Kapoor
1 Metachromatic Leukodystrophy Arylsulfatase A ARSA



Dr Seema Kapoor
2 Sphingolipid activator protein deficiencies Prosaposin, Saposin B, Saposin C PSAP



Dr Seema Kapoor
3 Infantile Free Sialic Acid Storage Disease/ISSD Na phosphate cotransporter SLC17A5
5 Genetic Research Centre, Mumbai Dr Parag Tamhankar






Dr Parag Tamhankar
1 Sandhoff disease/GM2 gangliosidosis - Infantile β-Hexosaminidase B HEXB



Dr Parag Tamhankar
2 Krabbe disease Galactosylceramide β-galactosidase GALC



Dr Parag Tamhankar
3 Activator Deficiency/GM2 Gangliosidosis GM2 activator protein GM2A



Dr Parag Tamhankar
4 Alpha-mannosidosis α-D-mannosidase MAN2B1



Dr Parag Tamhankar
5 Beta-mannosidosis β-D-Mannosidase MANBA
6 FRIGE centre, Ahmedabad Dr Jayesh Sheth






Dr Jayesh Sheth
1 Gaucher Disease β-glucosidase GBA



Dr Jayesh Sheth
3 Batten Disease NCL1
palmitoyl protein thioesterase 1 (PPT1)
CLN1



Dr Jayesh Sheth
2 Batten Didease LINCL2
tripeptidyl-peptidase 1 (TPP1)
CLN2



Dr Jayesh Sheth
4 Tay-Sachs/GM2 gangliosidosis β-Hexosaminidase A HEXA
7 Centre for DNA Fingerprinting and Diagnostics, Hyderabad Dr Ashwin Dalal






Dr Ashwin Dalal
1 Niemann Pick Disease SPHINGOMYELINASE SMPD1



Dr Ashwin Dalal
2 Niemann-Pick Disease Type C 1 NPC1 protein NPC1



Dr Ashwin Dalal
3 Niemann-Pick Disease Type C 2 Epididymal secretory protein 1 NPC2



Dr Ashwin Dalal
4 Mucolipidosis I/Sialidosis Neuraminidase 1 NEU1



Dr Ashwin Dalal
5 Mucolipidosis II (I Cell Disease) & Mucolipidosis III A/B (PseudoHurler polydystrophy) N-acetylglucosaminyl-1-phosphotransfeerase GNPTAB



Dr Ashwin Dalal
6 Mucolipidosis type IV ganglioside sialidase MCOLN1



Dr Ashwin Dalal
7 Farber disease Ceramidase ASAH



Dr Ashwin Dalal
8 MPS VI Maroteaux-Lamy N-ACETYL GALACTOSAMINE-4-SULFATASE ARSB



Dr Ashwin Dalal
9 MPS VII Sly Syndrome B-GLUCURONIDASE GUSB
8 Kasturba Medical College, Manipal Dr Girisha KM






Dr Girisha KM
1 Morquio Type A/MPS IVA GALACTOSE-6-SULFATE SULFATASE GALNS



Dr Girisha KM
2 GM1 gangliosidosis β-galactosidase GLB1



Dr Girisha KM




9 SAT Hospital, Trivandrum Dr Sankar VH






Dr Sankar VH
1 Gaucher Disease β-glucosidase GBA



Dr Sankar VH
2 Galactosialidosis Protective protein/ cathepsin A (PPCA) PPGB