Journal of Inherited Metabolic Disease

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

Inborn errors of metabolism in Latin America: challenges and opportunities

  • Roberto Giugliani
Newborn Screening


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.


Latin American Country Inborn Error Reference Center Neonatal Screening Gross National Income 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The author acknowledges CNPq (Brazilian Research Council) for the investigator fellowship (grant 304618/2009-8) and for the support received to the Brazilian Institute of Population Medical Genetics-INAGEMP (grant 573993/2008-4).


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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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