Inborn errors of metabolism in Latin America: challenges and opportunities
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- Giugliani, R. J Inherit Metab Dis (2010) 33: 315. doi:10.1007/s10545-010-9112-8
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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 America includes 33 independent countries and 11 possessions, geographically spread over 21 million km2 across South America, Central America, North America and the Caribbean (www.wikipedia.org).
In Latin America, there is important representation and heavy miscegenation of the three main human races (Sans 2000). The dominant cultural heritage, however, is much more homogeneous, due to the—sometimes ruthless—imposition of European culture over many centuries. In due course, the population of 570 million inhabitants has developed two predominant languages: Spanish (2/3 of the population, spoken in the vast majority of countries) and Portuguese (which, although spoken only in Brazil, is the native language of 1/3 of the population).
The heterogeneous distribution of the ethnic groups leads to important differences in disease incidences. Taking phenylketonuria (PKU) as an example, its incidence of around 1:15,000 in the Southern Cone, where the presence of European descendants if higher, contrasts with a much lower figure (around 1:50,000) in some northern areas where the proportion of descendants of blacks and native Americans is more important (Borrajo 2007)
Selected data (information refers to 2007 data) of Latin American countries, ranked by per capita gross national income (GNI) (the table includes only independent countries with over 1,000,000 inhabitants)
GDPa (billion US$)
GNIb per capita (US$)
Child mortality (under 5/1,000)
Life expectancy (years)
The predominant occidental culture, miscigenated ethnicity and economic background of recent development but still with huge disparities makes Latin America an interesting case of mixed challenges and opportunities in the IEM field.
Low priority of genetic metabolic diseases:
Heterogeneous templates of health services:
Economic and political instability:
Difficulty in integrating countries in a large transnational community:
While the idea of a community of nations was historically present, it is still a distant dream. In practical terms, it is very difficult to establish collaborative efforts, and even the simple shipment of samples from one country to another faces an incredible list of sanitary and administrative barriers. The same applies to doctors, scientists and patients who want to take advantage of the expertise of a reference center located in a foreign country.
Large urban concentrations:
Neonatal screening programs:
Samples in filter paper:
Population medical genetics
The population genetics approach to medical genetics problems is bringing new possibilities to the Latin American teams which work with inborn errors of metabolism. Well-known examples such as the one of GM2 gangliosidosis in Argentina (Kremer et al. 1985) have multiplied, with indications of clusters of Niemann-Pick B disease in Chile, MPS II in Bolivia, and MPS IV A in Colombia, among others. A recent report indicates an increased incidence of MPS VI in Northeast Brazil.
Comments and proposals
Integrate activities of provision of health services, education and research:
Increase investment on training of human resources on diagnosis and treatment of IEM:
Expand information supply and access of health professionals acting on the area of IEM to reference centers:
Use the neonatal screening framework to expand the provision of diagnostic and management services for high-risk patients:
Work with government authorities to overcome difficulties to transport samples across borders:
The organization of networks involving the groups which work with IEM in Latin America, although still very preliminary and mostly restricted to domestic groups inside some countries, would be a rational way to optimize the use of available resources. An example of such a network is the RELAGH (Latin American Network of Human Genetics) created in 2001 (Giugliani and Matte 2004). Another initiative is the MPS Brazil Network, established in 2004 as a partnership of nine Brazilian services which are active in the diagnosis and/or treatment of mucopolysaccharidoses in Brazil. This network has diagnosed over 1,000 MPS patients since then, doubling the previous rate of diagnosis by offering easy information and free access to diagnostic tests (Schwartz et al. 2008).
Finally, in a continent with few reference centers for IEM, 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, also in the research area. Integrating these groups into a large transnational community of reference centers would be a major advance, enabling different groups to take reciprocal advantage of its strengths to accelerate the growth of this area on the continent. The coordinators of these centers and the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening could have a fundamental role in pushing this proposal forward.
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).