Clinical and laboratory basis for the diagnosis and understanding of neonatal metabolic diseases.

Authors

  • M A Bispo Serviço de Pediatria, Hospital S. Francisco Xavier, Lisboa.
  • P Ramos
  • T Laranjeiro
  • P Cabral
  • J M Palminha

DOI:

https://doi.org/10.20344/amp.2299

Abstract

The authors divide neonatal metabolic diseases into two major groups: intoxication and energy deficiency. The main signs which allow for the suspicion of the diagnosis are indicated for each group. The complementary examinations to be carried out by the Clinical Pathology Service of the Central Hospital and those which must be carried out by the metabolic diseases Reference Centre are reviewed. Based on the clinical framework and on the examination results, the authors establish five syndromatic groups to orientate diagnosis. The authors conclude by presenting differential diagnosis tables based on the original systematic classification by Jean-Marie Saudubray, with up-dated modifications from their own experience.

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How to Cite

1.
Bispo MA, Ramos P, Laranjeiro T, Cabral P, Palminha JM. Clinical and laboratory basis for the diagnosis and understanding of neonatal metabolic diseases. Acta Med Port [Internet]. 1998 Jul. 31 [cited 2024 Nov. 5];11(7):675-81. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/2299

Issue

Section

Arquivo Histórico