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Marin-Valencia I.,Hospital Sant Joan de Deu | Vilaseca M.A.,Hospital Sant Joan de Deu | Vilaseca M.A.,Research Center Biomedica En Red Of Enfermedades Raras Ciberer Iscii | Thio M.,Hospital Sant Joan de Deu | And 6 more authors.
European Journal of Paediatric Neurology | Year: 2010

Aim: To assess the efficacy of the perimortem protocol in neonates with suspected inborn errors of metabolism (IEM). Methods: Retrospective analysis of medical records from January 2000 through December 2007 was performed. Only neonates (≤1 month of life) in whom the perimorterm protocol was applied were included in the study. The samples were collected following the instructions of our exitus kit, which contains the perimortem protocol and the material for the extraction of biological specimens. Results: Among the 42 neonates studied, in 28 an IEM was suspected during hospitalization and 15 (36%) were diagnosed with IEM. Mitochondrial disorders were the most frequent diagnosis (8 patients), followed by urea cycle disorders (3 patients), organic acidemias (2 patients), one patient with congenital disorder of glycosylation (CDG type Ia), and one patient with molybdenum cofactor deficiency. Sepsis and other life-threatening conditions appeared to have a biochemical profile very similar to IEM. Conclusion: This protocol was especially useful for collecting all biological samples in patients with rapidly fatal evolution with a non-specific diagnostic suspicion, and to collect special tissues in previously diagnosed patients. However, only the combination of clinical and biochemical data could lead to a diagnosis which would be confirmed by enzymatic/genetic studies. © 2009 European Paediatric Neurology Society.

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