Journal of mucopolysaccharidosis and rare diseases

Association for Research of MPS and Rare Diseases (뮤코다당증연구학회)
권호 표지
DOI QR코드

DOI QR Code

Lysosomal Storage Disorders in India: A Mini Review

  • Gupta, Neerja (Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences) ;
  • Aggarwal, Bhawana (Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences) ;
  • Kabra, Madhulika (Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences)
  • Received : 2018.05.20
  • Accepted : 2018.06.05
  • Published : 2018.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Lysosomal storage disorders are a group of rare inherited metabolic disorders with protean manifestations and variable severity ranging from attenuated forms to severe ones. It is necessary to diagnose and manage these disorders timely before irreversible damage occurs. Prior to the era of enzyme replacement therapy and newer therapeutics, only treatment option available was palliative care. Over the past two decades, extensive research in the lysosomal storage disorders has led to substantial expansion of our understanding about them. This mini review focusses on the spectrum, challenges faced in the diagnosis and therapy and remedial actions taken so far in lysosomal storage disorders in resource constrained country like India.

Keywords

References

  1. Meikle P, Hopwood J, Clague A, Carey W. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54. https://doi.org/10.1001/jama.281.3.249
  2. Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr 2012;49:799-804. https://doi.org/10.1007/s13312-012-0192-4
  3. Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in india: a need for early diagnosis. Indian J Pediatr 2015;82:525-9. https://doi.org/10.1007/s12098-014-1628-8
  4. Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep 2013;12:51-63.
  5. Muranjan M, Patil S. Outcome of Gaucher disease in India: Lessons from prevalent diagnostic and therapeutic practices. Indian Pediatr 2016;53:685-8. https://doi.org/10.1007/s13312-016-0910-4
  6. Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J. Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: a retrospective study from India. Clin Chim Acta 2016;457:8-11. https://doi.org/10.1016/j.cca.2016.03.004
  7. Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, et al. Inherited metabolic disorders: efficacy of enzyme assays on dried blood spots for the diagnosis of lysosomal storage disorders. JIMD Rep 2017;31:15-27.
  8. Supriya M, De T, Christopher R. Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population. Clin Biochem 2017;50:858-63. https://doi.org/10.1016/j.clinbiochem.2017.04.004
  9. Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, et al. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. J Hum Genet 2014;59:223-8. https://doi.org/10.1038/jhg.2014.5
  10. Ranganath P, Matta D, Bhavani GSL, Wangnekar S, Jain JMN, Verma IC, et al. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Am J Med Genet Part A 2016;170:2719-30. https://doi.org/10.1002/ajmg.a.37817
  11. Shukla P, Vasisht S, Srivastava R, Gupta N, Ghosh M, Kumar M, et al. Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. J Neurol Sci 2011;301:38-45. https://doi.org/10.1016/j.jns.2010.11.007
  12. Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, et al. Recurrent and novel GLB1 mutations in India. Gene 2015;567:173-81. https://doi.org/10.1016/j.gene.2015.04.078
  13. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, et al. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clin Genet 2016;90:496-508. https://doi.org/10.1111/cge.12795
  14. Bidchol AM, Dalal A, Shah H, Suryanarayana S, Nampoothiri S, Kabra M, et al. GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Am J Med Genet Part A 2014;164:2793-801. https://doi.org/10.1002/ajmg.a.36735
  15. Uttarilli A, Ranganath P, Jamal Md Nurul Jain S, Krishna Prasad C, Sinha A, Verma IC, et al. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian J Med Res 2015;142:414-25. https://doi.org/10.4103/0971-5916.169201
  16. Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar P, Patil S, et al. Identification of novel mutations in HEXA gene in children affected with tay Sachs disease from India. PLoS One 2012;7:e39122. https://doi.org/10.1371/journal.pone.0039122
  17. Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, et al. Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. Mol Genet Metab Rep 2014;1:425-30. https://doi.org/10.1016/j.ymgmr.2014.09.004
  18. Beck M. Treatment strategies for lysosomal storage disorders. Dev Med Child Neurol 2018;60:13-8. https://doi.org/10.1111/dmcn.13600
  19. Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, et al. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatr 2011;48:779. https://doi.org/10.1007/s13312-011-0128-4
  20. Muranjan M, Karande S. Enzyme replacement therapy in India: Lessons and insights. J Postgrad Med 2018.
  21. Malatack JJ, Consolini DM, Bayever E. The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatr Neurol 2003;29:391-403. https://doi.org/10.1016/j.pediatrneurol.2003.09.003
  22. Somaraju UR, Tadepalli K. Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst Rev 2012;(7):CD006974.
  23. Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009;123:19-29. https://doi.org/10.1542/peds.2008-0416
  24. Kaur M, Verma IC. Enzyme studies in GM 2 gangliosidiosis, and their application in prenatal diagnosis. Indian J Pediatr 1995;62:485-9. https://doi.org/10.1007/BF02755072
  25. Prajnya R, Rehder C, Phadke SR, Bali D. Prenatal diagnosis of Pompe disease - Enzyme assay or molecular testing? Indian Pediatr 2011;48:901-6. https://doi.org/10.1007/s13312-011-0130-x
  26. Mistri M, Oza N, Sheth F, Sheth J. Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases. Mol Cytogenet 2014;7(Suppl 1):P126. https://doi.org/10.1186/1755-8166-7-S1-P126
  27. Sheth J, Mistri M, Sheth F, Datar C, Godbole K, Kamate M, et al. Prenatal diagnosis of lysosomal storage disorders by enzymes study using chorionic villus and amniotic fluid. J Fetal Med 2014;1:17-24. https://doi.org/10.1007/s40556-014-0001-3
  28. Verma J, Thomas DC, Sharma S, Jhingan G, Saxena R, Kohli S, et al. Inherited metabolic disorders: Prenatal diagnosis of lysosomal storage disorders. Prenat Diagn 2015;35:1137-47. https://doi.org/10.1002/pd.4663
  29. Rajasimha HK, Shirol PB, Ramamoorthy P, Hegde M, Barde S, Chandru V, et al. Organization for rare diseases India (ORDI)-addressing the challenges and opportunities for the Indian rare diseases' community. Genet Res (Camb) 2014;96:e009. https://doi.org/10.1017/S0016672314000111