Case report: ADHD and prognosis in tyrosinemia type 1

Helene Barone; Irene Bircow Elgen; Yngve Thomas Bliksrud; Eirik Vangsøy Hansen; Rita Rigmor Skavhellen; Magne Ivar Furevik; Jan Haavik

doi:10.3389/fpsyt.2023.1213590

Case report: ADHD and prognosis in tyrosinemia type 1

Front Psychiatry. 2023 Jul 18:14:1213590. doi: 10.3389/fpsyt.2023.1213590. eCollection 2023.

Authors

Helene Barone¹, Irene Bircow Elgen², Yngve Thomas Bliksrud³, Eirik Vangsøy Hansen⁴, Rita Rigmor Skavhellen², Magne Ivar Furevik², Jan Haavik^{5

6}

Affiliations

¹ Regional Resource Center for Autism, ADHD and Tourette Syndrome, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
² Department of Child and Adolescent Psychiatry, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
³ Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
⁴ Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
⁵ Bergen Center of Brain Plasticity, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
⁶ Department of Biomedicine, University of Bergen, Bergen, Norway.

Abstract

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

Keywords: attention-deficit hyperactivity disorder; case report; neurometabolic disorders; treatment compliance; tyrosinemia type 1.

Publication types

Case Reports

Grants and funding

This work was supported by grants from Stiftelsen Kristian Gerhard Jebsen (SKGJ-MED-02), the Regional Health Authority of Western Norway (912264), the Research Council of Norway (Project No. 331725), and the Norwegian ADHD Research Network (NevSom; project 51379, 815138).