Advertisement

Status of Newborn Screening and Inborn Errors of Metabolism in India

  • Seema Kapoor
  • B. K. Thelma
Review Article

Abstract

Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders that cause significant neonatal and infant mortality. Expanded newborn screening which detects these disorders at birth is the standard preventive strategy in most countries. Prospective studies to evaluate the impact of these in the Indian population are lacking. The imminent need to address this lacuna warrants a review of available pan India data, as well as efforts for a carefully conducted prospective assessment of the burden of IEM. Published data on IEM in the Indian population comprising universal prospective screening and screening in selected subgroups (patients admitted to pediatric/neonatal ICUs, patients with developmental delay/mental retardation) was collected through a systematic search. The primary focus was to get an estimate of the disease burden in the Indian population. A true prevalence of IEM in India is not available. The systematic review identifies and stratifies the various situations where IEM are found. Data collected by universal screening of the low risk population is essential to identify the true prevalence of IEM in India.

Keywords

Inborn errors of metabolism Newborn screening Prevalence Neonates India 

Notes

Acknowledgments

The authors are deeply indebted to Science and Engineering Research Board, New Delhi for funding their ongoing NBS study in Delhi state (Grant # IR/SO/LC-0001/2012). The exemplary vision of and valuable support from Dr. T. Ramasami, Former Secretary, Department of Science and Technology, New Delhi to initiate this study is gratefully acknowledged.

Contributions

SK and BKT conceived the primary NBS project and generated funding support and completed the entire review. They both act as guarantors for the review.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

Science and Engineering Research Board, New Delhi for NBS study in Delhi state vide Grant # IR/SO/LC-0001/2012 is gratefully acknowledged.

References

  1. 1.
    Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet. 2002;5:192–6.CrossRefPubMedGoogle Scholar
  2. 2.
    Kaur G, Srivastav J, Jain S, et al. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. Indian J Pediatr. 2010;77:969–73.CrossRefPubMedGoogle Scholar
  3. 3.
    Mellon JP, Stiven AG. A rapid method for the detection of plasma phenylalanine. J Med Lab Technol. 1966;23:204–6.PubMedGoogle Scholar
  4. 4.
    Ryff CD, Singer B. The contours of positive human health. Psychol Inq. 1998;9:1–28.CrossRefGoogle Scholar
  5. 5.
    Schoen E, Baker J, Colby C, To T. Cost benefit analysis of universal tandem MS for new born screening. Pediatrics. 2002;110:781–6.CrossRefPubMedGoogle Scholar
  6. 6.
    Carroll AE, Downs SM. Comprehensive cost-utility analysis of newborn screening strategies. Pediatrics. 2006;117:S287–95.CrossRefPubMedGoogle Scholar
  7. 7.
    Sharada D, Polasa H. Screening for PKU of preschool children and newborn infants in Hyderabad. Indian Pediatr. 1974;11:573–5.PubMedGoogle Scholar
  8. 8.
    Sahai I, Zytkowicz T, Rao S, Lakshmi Kotthuri A, Eaton RB, Akella RR. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India. Indian J Pediatr. 2011;78:953–60.CrossRefPubMedGoogle Scholar
  9. 9.
    The Goa newborn screening program [Internet]. 2011. Available at: http://wwww.dhsgoa.gov.in/documents/new_born.pdf. Accessed on 6th June 2017.
  10. 10.
    Staff Reporter. Newborn screening helps in detection of metabolic disorders. The Hindu [Internet]. 2013. Available at: http://www.thehindu.com/news/cities/chennai/newborn-screening-helps-in-detection-of-metabolic-disorders/article5368822.ece. Accessed on 3rd June 2017.
  11. 11.
    Neogen Labs. First step newborn screening test. [Internet]. 2017. Available at: http://www.neogenlabs.com/doctors.html. Accessed on 3rd June 2017.
  12. 12.
    Mathai G. The DISK people. The Telegraph [Internet]. 2008 Jun 23. Available at: http://www.telegraphindia.com/1080623/jsp/knowhow/story_9447002.jsp. Accessed 30 June 2017.
  13. 13.
    Rama Devi AR, Naushad SM. Newborn screening in India. Indian J Pediatr. 2004;71:157–60.CrossRefPubMedGoogle Scholar
  14. 14.
    Kumta NB. Inborn errors of metabolism-an Indian perspective. Indian J Pediatr. 2005;72:325–32.CrossRefGoogle Scholar
  15. 15.
    Ramadevi R, Savithri HS, Devi AR, Bittles AH, Rao NA. An unusual distribution of glucose-6-phosphate dehydrogenase deficiency of south Indian newborn population. Indian J Biochem Biophys. 1994;31:358–60.PubMedGoogle Scholar
  16. 16.
    Tribune News Service. A first: screening for genetic disorders. Chandigarh Tribune [Internet]. Online Edition 2007 Jan 6. Available at: http://www.tribuneindia.com/2007/20070106/cth1.htm. Accessed 3 June 2017.
  17. 17.
    Prasad R. Screening newborns for two metabolic disorders takes off. The Hindu [Internet]. 2008 Mar 20. Available at: http://www.hindu.com/seta/2008/03/20/stories/2008032050941500.htm. Accessed 3 June 2017.
  18. 18.
    Special correspondent. Newborn Goan babies to be screened for deformities. The Hindu [Internet]. 2008 Feb 9. Available at: http://www.hinduonnet.com/2008/02/09/stories/2008020951810300.htm. Accessed on 3rd June 2017.
  19. 19.
    Special correspondent. Centre clears genomics institute in Kalyani. The Telegraph [Internet]. 2009 Feb 24. Available at: http://www.telegraphindia.com/1090224/jsp/nation/story_10581924.jsp. Accessed 3 June 2017.
  20. 20.
    Rosy S. Test newborn for disabilities; Bombay High Court Tells Maharashtra. DNA News [Internet]. Online Edition 2011 March 19. Available at: http://www.dnaindia.com/mumbai/report-test-newborns-for-disabilities-bombay-high-court-tells-maharashtra-1521717. Accessed 3 June 2017.
  21. 21.
    Kannan R. Newborns screened for disabilities. The Hindu [Internet]. 2008 Mar 24 Available at: http://www.thehindu.com/2008/03/24/stories/2008032459300800.htm. Accessed 11 May 2009.
  22. 22.
    Jyothi Datta PT. Dr Lal Path Labs scouts for partner to fund expansion. The Hindu Business Line. [Internet] 2004 Aug 4. Available at: http://www.thehindubusinessline.com/2004/08/04/stories/2004080402840200.htm. Accessed 11 May 2009.
  23. 23.
    Dutta R. ICMR to conduct first nation-wide newborn screening for genetic disorders. Express Healthcare Management [Internet]. 2005 Sep 1–15. Available at: http://www.expresshealthcaremgmt.com/20050915/coverstory01.shtml. Accessed 11 May 2009.
  24. 24.
    Kochupillai N, Pandav CS, Godbole MM, Mehta M, Ahuja MM. Iodine deficiency and neonatal hypothyroidism. Bull World Health Organ. 1986;64:547–51.PubMedPubMedCentralGoogle Scholar
  25. 25.
    Desai MP, Upadhye P, Colaco MP, et al. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36–42.PubMedGoogle Scholar
  26. 26.
    Sanghvi U, Diwakar KK. Universal screening for congenital hypothyroidism. Indian Pediatr. 2008;45:331–2.PubMedGoogle Scholar
  27. 27.
    Mohanty MD. Newborn screening for glucose-6-phosphate dehydrogenase deficiency in Orissa, IMS and SUM hospital: a quantitative assay. Exp: Int J Sci Technol. 2014;22:1525–30.Google Scholar
  28. 28.
    Kapil U, Jain V, Kabra M, Pandey RM, Sareen N, Khenduja P. Prevalence of neonatal hypothyroidism in Kangra Valley, Himachal Pradesh. Eur J Clin Nutr. 2014;68:748–9.CrossRefPubMedGoogle Scholar
  29. 29.
    Shriraam V, Mahadevan S, Anitharani M, Selvavinayagam, Sathiyasekaran BWC. National health programs in the field of endocrinology and metabolism – miles to go. Indian J Endocrinol Metab. 2014;18:7–12.CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Gopalakrishnan V, Joshi K, Phadke S, et al. Newborn screening for congenital hypothyroidism. Galactosemia and biotinidase deficiency in Uttar Pradesh, India. Indian Pediatr. 2014;51:701–5.CrossRefPubMedGoogle Scholar
  31. 31.
    Verma IC, Bijarnia-Mahay S, Jhingan G, Verma J. Newborn screening: need of the hour in India. Indian J Pediatr. 2015;82:61–70.CrossRefPubMedGoogle Scholar
  32. 32.
    Anand MR, Ramesh P, Nath D. Congenital hypothyroidism screening with umbilical cord blood: retrospective analysis. Indian Pediatr. 2015;52:435–6.CrossRefPubMedGoogle Scholar
  33. 33.
    Kaur G, Thakur K, Kataria S, et al. Current and future perspective of newborn screening: an Indian scenario. J Pediatr Endocrinol Metab. 2016;29:5–13.CrossRefPubMedGoogle Scholar
  34. 34.
    Ahmed P, Ahmad KN. Screening of the newborns for glucose-6-phosphate dehydrogenase deficiency. Indian Pediatr. 1983;20:351–5.PubMedGoogle Scholar
  35. 35.
    Verma M, Singla D, Crowell SB. G6PD deficiency in neonates: a prospective study. Indian J Pediatr. 1990;57:385–8.CrossRefPubMedGoogle Scholar
  36. 36.
    Pao M, Kulkarni A, Gupta V, Kaul S, Balan S. Neonatal screening for glucose-6-phosphate dehydrogenase deficiency. Indian J Pediatr. 2005;72:835–7.CrossRefPubMedGoogle Scholar
  37. 37.
    Dash S, Chhanhimi L, Chhakchhuak L, Zomawaia E. Screening for haemoglobinopathies and G6PD deficiency among the Mizos of Mizoram: a preliminary study. Indian J Pathol Microbiol. 2005;48:17–8.PubMedGoogle Scholar
  38. 38.
    Bisoi S, Chakraborty S, Chattopadhyay D, Biswas B, Ray S. Glucose-6-phosphate dehydrogenase screening of babies born in a tertiary care hospital in West Bengal. Indian J Public Health. 2012;56:146–8.CrossRefPubMedGoogle Scholar
  39. 39.
    Lodh M, Kerketta A. Inborn errors of metabolism in a tertiary care hospital of eastern India. Indian Pediatr. 2013;50:1155–6.CrossRefPubMedGoogle Scholar
  40. 40.
    Goyal M, Garg A, Goyal MB, Kumar S, Ramji S, Kapoor S. Newborn screening for G6PD deficiency: a 2-year data from North India. Indian J Public Health. 2015;59:145–8.CrossRefPubMedGoogle Scholar
  41. 41.
    Singh A, Lomash A, Pandey S, Kapoor S. Clinical, biochemical and outcome profile of biotinidase deficient patients from tertiary centre in Northern India. J Clin Diagn Res. 2015;9:SC08–10.PubMedPubMedCentralGoogle Scholar
  42. 42.
    Venkataraman V, Balaji P, Panigrahi D, Jamal R. Biotinidase deficiency in childhood. Neurol India. 2013;61:411–3.CrossRefPubMedGoogle Scholar
  43. 43.
    Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol. 2008;38:848–56.CrossRefPubMedGoogle Scholar
  44. 44.
    Rathi N, Rathi M. Biotinidase deficiency with hypertonia as unusual feature. Indian Pediatr. 2009;46:65–7.PubMedGoogle Scholar
  45. 45.
    Bhat MD, Bindu PS, Christopher R, Prasad C, Verma A. Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. Metab Brain Dis. 2015;30:1291–4.CrossRefPubMedGoogle Scholar
  46. 46.
    Mukhopadhyay D, Das MK, Dhar S, Mukhopadhyay M. Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase. Indian J Dermatol. 2014;59:502–4.CrossRefPubMedPubMedCentralGoogle Scholar
  47. 47.
    Jagadeesh S, Suresh B, Seshadri S, Suzuki Y. Biotinidase deficiency: an atypical presentation. Natl Med J India. 2013;26:29–30.PubMedGoogle Scholar
  48. 48.
    Tomar R, Vashisth D, Vasudevan R. Biotinidase deficiency. Med J Armed Forces India. 2012;68:81–3.CrossRefPubMedPubMedCentralGoogle Scholar
  49. 49.
    Raha S, Udani V. Biotinidase deficiency presenting as recurrent myelopathy in a 7 year old boy and review of literature. Pediatr Neurol. 2011;45:261–4.CrossRefPubMedGoogle Scholar
  50. 50.
    Rajendiran A, Sampath S. Biotinidase deficiency-clinching the diagnosis rapidly can make all the difference! BMJ Case Rep. 2011; https://doi.org/10.1136/bcr.07.2011.4494. Accessed 3 June 2017.
  51. 51.
    Singhi P, Ray M. Ohtahara syndrome with biotinidase deficiency. J Child Neurol. 2011;26:507–9.CrossRefPubMedGoogle Scholar
  52. 52.
    Bhardwaj P, Kaushal RK, Chandel A. Biotinidase deficiency: a treatable cause of infantile seizures. J Pediatr Neurosci. 2010;5:82–3.CrossRefPubMedPubMedCentralGoogle Scholar
  53. 53.
    Joshi SN, Fathalla M, Koul R, Maney MA, Bayoumi R. Biotin responsive seizures and encephalopathy due to biotinidase deficiency. Neurol India. 2010;58:323–4.CrossRefPubMedGoogle Scholar
  54. 54.
    Dahiphale R, Jain S, Agrawal M. Biotinidase deficiency. Indian Pediatr. 2008;45:777–9.PubMedGoogle Scholar
  55. 55.
    Gulati S, Passi GR, Kumar A, Kabra M, Kalra V, Verma IC. Biotinidase deficiency--a treatable entity. Indian J Pediatr. 2000;67:464–6.CrossRefPubMedGoogle Scholar
  56. 56.
    Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A. Classical galactosemia among Indian children: presentation and outcome from a pediatric gastroenterology center. Indian Pediatr. 2016;53:27–31.CrossRefPubMedGoogle Scholar
  57. 57.
    Kabra M, Gupta N. Galactosemia, a not to be missed inborn error of metabolism. Indian Pediatr. 2016;53:19–20.CrossRefPubMedGoogle Scholar
  58. 58.
    Roy A, Samanta T, Purkait R, Mukherji A, Ganguly S. Etiology, clinical spectrum and outcome of metabolic liver diseases in children. J Coll Physicians Surg Pak. 2013;23:194–8.PubMedGoogle Scholar
  59. 59.
    Singh R, Thapa BR, Kaur G, Prasad R. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. Biochem Genet. 2012;50:871–80.CrossRefPubMedGoogle Scholar
  60. 60.
    Poddar U, Thapa BR, Das A, Bhattacharya A, Rao KL, Singh K. Neonatal cholestasis: differentiation of biliary atresia from neonatal hepatitis in a developing country. Acta Paediatr. 2009;98:1260–4.CrossRefPubMedGoogle Scholar
  61. 61.
    Yachha SK, Khanduri A, Kumar M, et al. Neonatal cholestasis syndrome: an appraisal at a tertiary center. Indian Pediatr. 1996;33:729–34.PubMedGoogle Scholar
  62. 62.
    Singh R, Ram J, Kaur G, Prasad R. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. Curr Eye Res. 2012;37:949–54.CrossRefPubMedGoogle Scholar
  63. 63.
    Chandrasekar S, Venkatesan K, Rajagopal G, et al. Galactosaemia--a combination of classical and Duarte variant in a family. J Assoc Physicians India. 1975;23:447–52.PubMedGoogle Scholar
  64. 64.
    Bajpai PC, Tripathi TK, Teotia M, Saxena KC. Galactosemia--a clinical and enzymological study in a family. Indian J Pediatr. 1971;38:449–54.CrossRefPubMedGoogle Scholar
  65. 65.
    Bharadwaj SK, Mondal N, Balachander B, Bhat BV. Negative urine Benedict's test in a child with galactosemia: a diagnostic challenge. Indian J Pediatr. 2015;82:765–6.CrossRefPubMedGoogle Scholar
  66. 66.
    Sahoo T, Thukral A, Agarwal R, Sankar MJ. Galactosaemia: an unusual cause of chronic bilirubin encephalopathy. BMJ Case Rep. 2015.  https://doi.org/10.1136/bcr-2014-206852. Accessed on 3rd June 2017.
  67. 67.
    Mathew V, Ramakrishnan A, Srinivasan R, Sushma K, Bantwal G, Ayyar V. Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia. Indian J Endocrinol Metab. 2013;17:289–91.CrossRefGoogle Scholar
  68. 68.
    Rathi N, Rathi A. Galactosemia presenting as recurrent sepsis. J Trop Pediatr. 2011;57:487–9.CrossRefPubMedGoogle Scholar
  69. 69.
    Sarkar M, Bose SS, Mondal G, Chatterjee S. Generalized epimerase deficiency galactosemia. Indian J Pediatr. 2010;77:909–10.CrossRefPubMedGoogle Scholar
  70. 70.
    Verma S, Bharti B, Inusha P. Association of fungal sepsis and galactosemia. Indian J Pediatr. 2010;77:695–6.CrossRefPubMedGoogle Scholar
  71. 71.
    Shah PA, Kuchhai FA. Galactosemia with chorea--an unusual presentation. Indian J Pediatr. 2009;76:97–8.CrossRefPubMedGoogle Scholar
  72. 72.
    Sodhi KS, Thapa BR, Walia A, Khandelwal N. Congenital intrahepatic porto-systemic venous shunt with galactosemia. Indian J Gastroenterol. 2007;26:87–8.PubMedGoogle Scholar
  73. 73.
    Kumar M, Yachha SK, Gupta RK. Neonatal cholestasis syndrome due to galactosemia. Indian J Gastroenterol. 1996;15:26–7.PubMedGoogle Scholar
  74. 74.
    Lal SK, Surya NC, Anantharaman V. Galactosaemia: an interesting case of survival. Indian J Med Res. 1963;51:677–82.PubMedGoogle Scholar
  75. 75.
    Hayes MS. Galactosemia, a case presentation. J Christ Med Assoc India. 1955;30:115–6.PubMedGoogle Scholar
  76. 76.
    Choudhury A, Das S, Kiran U. Anaesthetic management of a newborn with galactosaemia for congenital heart surgery. Indian J Anaesth. 2009;53:219–22.PubMedPubMedCentralGoogle Scholar
  77. 77.
    Christopher R, Nalini A. Cerebral lipidoses in patients with progressive neurodegeneration: a study from South India. Community Genet. 2002;5:186–91.CrossRefPubMedGoogle Scholar
  78. 78.
    Nagaraja D, Mamatha SN, De T, Chrisopher R. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population. Clin Biochem. 2010;43:581–8.CrossRefPubMedGoogle Scholar
  79. 79.
    Christopher R, Natarajan A. Screening for inborn errors of metabolism by tandem mass spectrometry: an eight year experience. Techagappe. 2016;2:21–3.Google Scholar
  80. 80.
    Kadali S, Kolusu A, Gummadi MR, Undamatla J. The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India. J Child Neurol. 2014;29:1377–82.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Division of Genetics and Metabolism, Department of PediatricsLok Nayak Hospital and Maulana Azad Medical CollegeNew DelhiIndia
  2. 2.Department of GeneticsUniversity of DelhiNew DelhiIndia

Personalised recommendations