Guiding signs in metabolic disease diagnosis

Susana Hernangómez Vázquez^a, Ana Isabel Jiménez Ortega^b, AB Martínez Zazo^b, B Cabeza Martín^c, A Martínez de Azagra^c, SI Sirvent Cerdá^d, C Pedrón Giner^b

^aServicio de Pediatría. Hospital Universitario del Tajo. Aranjuez. Madrid. España.
^bSección de Gastroenterología y Nutrición. Hospital Infantil Universitario Niño Jesús. Madrid. España.
^cServicio de Cuidados Intensivos Pediátricos. Hospital Infantil Universitario Niño Jesús. Madrid. España.
^dServicio de Radiodiagnóstico. Hospital Infantil Universitario Niño Jesús. Madrid. España.

Correspondence: S Hernangómez. E-mail: suro185@telefonica.net

Reference of this article: Hernangómez Vázquez S, Jiménez Ortega AI, Martínez Zazo AB, Cabeza Martín B, Martínez de Azagra A, Sirvent Cerdá SI, et al. Guiding signs in metabolic disease diagnosis. Rev Pediatr Aten Primaria. 2013;15:63-4.

Published in Internet: 02-04-2013 - Visits: 13038

Abstract

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

● Cerebellar hypoplasia ● Failure to thrive ● Inborn errors of metabolism

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