Abstract
Background and aims: IEM are genetic diseases the majority with recessive inheritance and varied clinical presentation that turn diagnosis into a challenge. Especially in developing countries, knowledge of IEM by health professionals is restricted. In order to overcome this problem, an Information Service on IEM (SIEM) was created in Brazil, being a pioneering service in Latin America. SIEM is operating in the Genetics Service of HCPA since October 2001, helping physicians to diagnose suspected patients as a toll-free service. For each consultation a follow-up is conducted and the case is considered “concluded” after its diagnosis is confirmed and classified as metabolic disease or not. Some cases remain undiagnosed. This study aims to compare investigational strategies in infants admitted to ICU under 1y-old, in order to emphasize personal investigation and remote advisement in diagnosis.
Methods: Cross-sectional study of 3 groups of children suspected to present an IEM, to be developed in 24 months, enrolling patients of NICU or PICU of HCPA, or suspected cases that consulted to SIEM, or even suspected cases which their biological samples were sent to IEM Laboratory of HCPA.
Results: We did not find any paper comparing investigational strategies, that's why this study is important. Giugliani et al, in 1991, diagnosed IEM in 8% of suspected samples and Sanseverino studied ICU suspected patients confirming 13%. Unpublished data from SIEM showed a prevalence of 16%.
Conclusions: we estimate to study 225 for each group to find a difference of at least 8% between SIEM cases and laboratory cases.
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Carvalho, C., Giugliani, R. & Souza, C. 1039 Inborn Errors of Metabolism (IEM) in Infants Admitted to Intensive Care Units: A Study About Different Investigational Strategies. Pediatr Res 68 (Suppl 1), 516 (2010). https://doi.org/10.1203/00006450-201011001-01039
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DOI: https://doi.org/10.1203/00006450-201011001-01039