Couce, Maria LuzSanchez-Pintos, PaulaAldamiz-Echevarria, LuisVitoria, IsidroNavas, VictorMartin-Hernandez, ElenaGarcia-Volpe, CamilaPintos, GuillemPeña-Quintana, LuisHernandez, TomasGil, DavidSanchez-Valverde, FelixBueno, MariaRoca, IriaLopez-Ruzafa, EncarnaDiaz-Fernandez, Carmen2023-01-252023-01-252019-08-27Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, et al. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. Medicine (Baltimore). 2019 Sep;98(39):e17303http://hdl.handle.net/10668/14573Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical long-term evolution.We evaluated 52 patients, 7 adults and 45 children, treated with NTBC considering: age at diagnosis, diagnosis by clinical symptoms, or by newborn screening (NBS); phenotype (acute/subacute/chronic), mutational analysis; symptoms at diagnosis and clinical course; biochemical markers; doses of NTBC; treatment adherence; anthropometric evolution; and neurocognitive outcome.The average follow-up period was 6.1 ± 4.9 and 10.6 ± 5.4 years in patients with early and late diagnosis respectively. All patients received NTBC from diagnosis with an average dose of 0.82 mg/kg/d. All NBS-patients (n = 8) were asymptomatic at diagnosis except 1 case with acute liver failure, and all remain free of liver and renal disease in follow-up. Liver and renal affectation was markedly more frequent at diagnosis in patients with late diagnosis (P T.After NTBC treatment a reduction in tyrosine and alpha-fetoprotein levels was observed in all the study groups, significant for alpha-fetoprotein in no NBS-group (P = .03), especially in subacute/chronic forms (P = .018).This series confirms that NTBC treatment had clearly improved the prognosis and quality of life of HT1 patients, but it also shows frequent cognitive dysfunctions and learning difficulties in medium-term follow-up, and, in a novel way, a high percentage of overweight/obesity.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/NephrocalcinosisPhenotypeSevere liver dysfunctionTubulopathyTyrosineAdultChildCognitive DysfunctionCyclohexanonesDelayed DiagnosisEnzyme InhibitorsFemaleFollow-Up StudiesHumansInfant, NewbornKidney DiseasesMaleNeeds AssessmentNeonatal ScreeningNitrobenzoatesObesityPrognosisQuality of LifeRetrospective StudiesSpainTime-to-TreatmentTyrosinemiasresearch article31574857open accessTirosinaCalidad de VidaObesidadProgresión de la EnfermedadDisfunción CognitivaFallo Hepático Agudo10.1097/MD.00000000000173031536-5964PMC6775438https://doi.org/10.1097/md.0000000000017303https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775438/pdf