Journal of Inherited Metabolic Disease

, Volume 33, Supplement 2, pp 315–320 | Cite as

Inborn errors of metabolism in Latin America: challenges and opportunities

Newborn Screening

Abstract

Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Challenges to the progress of the IEM field include the huge disparities, the high prevalence of malnutrition and infections, the co-existence of very different models of public health services, the unstable socio-economic and political conditions, and the difficulties in integrating the countries. However, a rapidly changing social and economic environment is presenting many opportunities to the IEM field, like the improvements in infrastructure, the concentration of the population in urban areas, the continuous growth of neonatal screening, the use of filter paper samples, the availability of internet communication, and the interest in IEM by the new population medical genetics discipline. Analyzing this picture, several proposals are presented, such as the development of activities of provision of health services, education and research as an integrated package, the increase in training of human resources, the expansion of access to diagnostic tests, and the use the neonatal screening framework to expand the provision of services. In a continent with few IEM centers, there is a major need for such groups to work in collaboration, complementing each other's capabilities, providing training of human resources, and developing joint projects. The integration of these groups into a large transnational network of reference centers would be a major task for the coming years.

References

  1. Borrajo GJ (2007) Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis 30:466–481CrossRefPubMedGoogle Scholar
  2. Chamoles NA, Blanco M, Gaggioli D (2001) Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem 47(4):780–1PubMedGoogle Scholar
  3. Giugliani R, Matte U (2004) The Latin American Network of Human Genetics. Comm Genet 7:74–75CrossRefGoogle Scholar
  4. Kremer RD, Boldini CD, Capra AP, Levstein IM, Bainttein N, Hidalgo PK, Hilba H (1985) Sandhoff disease: 36 cases from Cordoba, Argentina. J Inherit Metab Dis 8(1):46CrossRefPubMedGoogle Scholar
  5. Mathers CD, Loncar D (2006) Projections of global mortality and burden of disease from 2002 to 2030. PLoS Med 3(11):e442CrossRefPubMedGoogle Scholar
  6. Ocké-Reis CO, Marmor TR (2010) The Brazilian national health system: na unfulfilled promise ? Int J Health Plann Manag (published online 11 Jan 2010)Google Scholar
  7. Sans M (2000) Admixture studies in Latin America: from the 20th to the 21st century. Hum Biol 72(1):155–77PubMedGoogle Scholar
  8. Schwartz I, Giugliani R, Federhen A, Leistner-Segal S, Matte U, Burin M, Coelho J, Valadares E, Duarte A, Steiner C, Kim A, Martins AM, Horovitz D, Ribeiro M, Boy R, Acosta A, Pina Neto JM, Ribeiro E, Silva L (2008) MPS Brazil Network: 4 years improving diagnosis and management of mucopolysaccharidosis in Brazil. Abstract 2353/W, presented at the 58th Annual Meeting of The American Society of Human Genetics, November 11–15, 2008, Philadelphia, PA, USA. Available at http://www.ashg.org/2008meeting/pdf/abstractbook1.pdf, page 445
  9. Uribe A, Cé J, Guidobono R, España M, Burin M, Giugliani R (2009) Quantification and separation of glycosaminoglycans through dry urine collected in filter paper. Rev Invest Clin 61(suppl 1):63Google Scholar

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  1. 1.WHO Collaborating Center for the Development of Medical Genetics Services in Latin AmericaPorto AlegreBrazil
  2. 2.Brazilian National Institute of Population Medical Genetics—INAGEMPPorto AlegreBrazil
  3. 3.Department of Genetics/UFRGS and Medical Genetics Service/HCPAPorto AlegreBrazil
  4. 4.Medical Genetics ServicePorto AlegreBrazil

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