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

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.