Journal Information
Vol. 72. Issue 02.
Pages 63-70 (March - April 1996)
Share
Share
Download PDF
More article options
Vol. 72. Issue 02.
Pages 63-70 (March - April 1996)
Full text access
Erros inatos do metabolismo em crianças e recém-nascidos agudamente enfermos: guia para o seu diagnóstico e manejo
Visits
2897
Laura B. Jardima
a Departamento de Medicina Interna, FAMED, UFRGS, e Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS.
This item has received
Article information
Abstract
 

The manifestations of Inborn Errors of Metabolism (IEM) with an acute presentation are extremely unspecific, which makes its diagnosis a task of laboratorial interpretation. At the same time, the early diagnosis of many of these IEM allows quite satisfactory therapeutic interventions, followed by favorable clinical evolutions. To make the work of pediatricians and neonatologists easier in the diagnosis and immediate management of these conditions with an acute onset, a flowchart of procedures is suggested. The different steps suggested are justified and complemented by adjacent comments, which are restricted to the more serious and common manifestations of these disorders, like metabolic acidosis, hyperammonemia and hypoglicemia. Finally, the reading of specific and more detailed literature is suggested for the understanding of the different families of specific IEM.

Full text is only available in PDF
Download PDF
Idiomas
Jornal de Pediatria (English Edition)
Article options
Tools
en pt
Taxa de publicaçao Publication fee
Os artigos submetidos a partir de 10 de fevereiro de 2025, que forem aceitos para publicação no Jornal de Pediatria, estarão sujeitos a uma taxa para que tenham sua publicação garantida. Ao submeterem o manuscrito a esta revista, os autores concordam com esses termos. A submissão dos manuscritos continua gratuita. Effective February 10, 2025, all articles submitted will be subject to an Article Publishing Charge (APC) after peer review and acceptance. By submitting the manuscript to this journal, the authors agree to these terms. Manuscript submission remains free of charge.
Cookies policy Política de cookies
To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here. Utilizamos cookies próprios e de terceiros para melhorar nossos serviços e mostrar publicidade relacionada às suas preferências, analisando seus hábitos de navegação. Se continuar a navegar, consideramos que aceita o seu uso. Você pode alterar a configuração ou obter mais informações aqui.