Abstract

HERNANGOMEZ VAZQUEZ, S. et al. Guiding signs in metabolic disease diagnosis. Rev Pediatr Aten Primaria [online]. 2013, vol.15, n.57, pp.63-64. ISSN 1139-7632.  https://dx.doi.org/10.4321/S1139-76322013000100009.

Inborn errors of metabolism are a group of genetic diseases with non specific symptoms and therefore difficult to diagnose without high clinical suspicion. However there are some physical examination data and laboratory tests that can focus the diagnostic process to the implementation of specific tests to confirm them. The case exposed highlights some of these data that can make us suspect the existence of a congenital defect of glycosylation of proteins, rare disorder but with some treatable variations, that make their suspicion and early diagnosis of great importance.

Keywords : Inborn errors of metabolism; Failure to thrive; Cerebellar hypoplasia.

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