Neurological crisis in tyrosinemia type 1: Essential roles of replacement therapy and nutrition in multidisciplinary management

Autores de IIS La Fe

• David Sanchís Pascual

  Autor

• Agustin Ramos Prol

  Autor

• María Argente Pla

  Autor

• Cristina Montalbán Mendez

  Autor

• Darío Lara Gálvez

  Autor

• Carlos José Folgado Bisbal

  Autor

• Montserrat León Fabregas

  Autor

• Eva María Gascó Santana

  Autor

• Mª Pilar Morillas Amat

  Autor

• Mónica García Peris

  Autor

• Patricia Correcher Medina

  Autor

• Juan Francisco Merino Torres

  Autor

Participantes ajenos a IIS La Fe

• Brosetaa, MAR

Grupos

• Medicina Intensiva

• Neumología

• Nutrición y Metabolopatías

• Perinatología

• Unidad Mixta de Investigación en Endocrinología, Nutrición y Dietética clínica

Abstract

This is the case of a man with hepatorenal tyrosinemia type 1 (HT-1). Following the omission of his usual treatment with nitisinone and the withdrawal of dietary recommendations, the patient developed a severe neurological crisis requiring admission to the intensive care unit (ICU) due to profound diaphragmatic weakness. Despite the initial severity, appropriate management led to a favorable outcome and, eventually, weaning from mechanical ventilation. This case underscores the critical importance of a multidisciplinary approach in the management of inborn errors of metabolism, where nutritional therapy remains the cornerstone of treatment to prevent life-threatening complications. (c) 2025 SEEN y SED. Published by Elsevier Espana, S.L.U. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Copyright © 2025. Published by Elsevier España, S.L.U.

Keywords

• Tyrosinemia type 1; Nitisinone; Nutritional management; Tyrosine; Succinylacetone; Metabolic neuropathy; Respiratory failure