Case report: ADHD and prognosis in tyrosinemia type 1

Neurometabolic disorders such as tyrosinemia type 1 (TYRSN1) may interfere with brain metabolism and show symptoms of attention-deficit hyperactivity disorder (ADHD) in patients treated the enzyme inhibitor nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione, NTBC]. It has been reported that ADHD treatment improves compliance, which is imperative for long-term prognosis TYRSN1. In this study, we report case a male patient who was diagnosed TYRSN1 at 3 months age subsequently NTBC, restricted protein intake, amino acids supplementation. At 7 years age, he referred neuropsychiatric assessment, ADHD, methylphenidate. The effects were monitored via parental interviews, questionnaires covering symptoms, continuous performance test. A reduction particularly inattentiveness, observed across all measures. early identification neurometabolic disorders, TYRSN1, be important from lifetime perspective improve medical condition well.