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

David Sanchis-Pascual, Agustín Ramos Prol, María Argente Pla, Cristina Montalbán Méndez, Darío Lara Gálvez, Carlos Folgado Bisbal, Montserrat León Fábregas, María Amparo Rubio Broseta, Eva Gascó Santana, Pilar Morillas-Amat, Mónica García Peris, Patricia Correcher Medina, Juan Francisco Merino-Torres

Journal: Endocrinologia, diabetes y nutricion 2025;72(9):501534

PMID: 41173572

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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.

Address: Endocrinology and Nutrition Department, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain; Joint Research Unit on Endocrinology, Nutrition and Clinical Dietetics, Health Research Institute La Fe, 46026 Valencia, Spain.; Endocrinology and Nutrition Department, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain; Joint Research Unit on Endocrinology, Nutrition and Clinical Dietetics, Health Research Institute La Fe, 46026 Valencia, Spain. Electronic address: [email protected].; Intensive Care Medicine Department, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain.; Pulmonology Department, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain.; Endocrinology and Nutrition Department, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain.; Pediatric Endocrinology Unit, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain.; Pediatric Nutrition and Metabolic Unit, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain.; Endocrinology and Nutrition Department, La Fe University and Polytechnic Hospital in Valencia, 46026 Valencia, Spain; Joint Research Unit on Endocrinology, Nutrition and Clinical Dietetics, Health Research Institute La Fe, 46026 Valencia, Spain; Department of Medicine, University of Valencia, 46010 Valencia, Spain.

DOI: 10.1016/j.endien.2025.501534

MeSH Terms: Humans, Tyrosinemias, Male, Patient Care Team, Adult, Cyclohexanones, Nitrobenzoates