Research & Literature

Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I.

Simoncelli M, Samson J, Bussières JF, et al.

The Canadian journal of hospital pharmacy 2015; (68(3)):210-7.

Midkine Increases Diagnostic Yield in AFP Negative and NASH-Related Hepatocellular Carcinoma.

Vongsuvanh R, van der Poorten D, Iseli T, et al.

PloS one 2016; (11(5)):e0155800 doi:10.1371/journal.pone.0155800.

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

Uçar HK, Tümgör G, Kör D, et al.

Balkan medical journal 2016; (33(3)):370-2 doi:10.5152/balkanmedj.2016.141074.

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.

van Ginkel WG, Jahja R, Huijbregts SC, et al.

Orphanet journal of rare diseases 2016; (11(1)):87 doi:10.1186/s13023-016-0472-5.

What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

van Dam E, Daly A, Venema-Liefaard G, et al.

JIMD reports 2017; (36()):49-57 doi:10.1007/8904_2016_37.

Hepatocellular Carcinoma Screening Associated with Early Tumor Detection and Improved Survival Among Patients with Cirrhosis in the US.

Singal AG, Mittal S, Yerokun OA, et al.

The American journal of medicine 2017; (130(9)):1099-1106.e1 doi:10.1016/j.amjmed.2017.01.021.

Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

Stinton C, Geppert J, Freeman K, et al.

Orphanet journal of rare diseases 2017; (12(1)):48 doi:10.1186/s13023-017-0599-z.

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet.

García MI, de la Parra A, Arias C, et al.

Molecular genetics and metabolism reports 2017; (11()):12-16 doi:10.1016/j.ymgmr.2017.01.016.

Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.

Morrow G, Tanguay RM

Advances in experimental medicine and biology 2017; (959()):9-21 doi:10.1007/978-3-319-55780-9_2.

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Morrow G, Angileri F, Tanguay RM

Advances in experimental medicine and biology 2017; (959()):25-48 doi:10.1007/978-3-319-55780-9_3.

Tyrosinemia Type I in Japan: A Report of Five Cases.

Nakamura K, Ito M, Shigematsu Y, Endo F

Advances in experimental medicine and biology 2017; (959()):133-138 doi:10.1007/978-3-319-55780-9_12.

Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.

Giguère Y, Berthier MT

Advances in experimental medicine and biology 2017; (959()):139-146 doi:10.1007/978-3-319-55780-9_13.

From Weed Killer to Wonder Drug.

Lock EA

Advances in experimental medicine and biology 2017; (959()):175-185 doi:10.1007/978-3-319-55780-9_16.

Dietary Considerations in Tyrosinemia Type I.

van Spronsen FJ, van Rijn M, Meyer U, Das AM

Advances in experimental medicine and biology 2017; (959()):197-204 doi:10.1007/978-3-319-55780-9_18.

Combination of triple biomarkers AFP, AFP-L3, and PIVAKII for early detection of hepatocellular carcinoma in China: Expectation.

Gao J, Song P

Drug discoveries & therapeutics 2017; (11(3)):168-169 doi:10.5582/ddt.2017.01036.

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Das AM

The application of clinical genetics 2017; (10()):43-48 doi:10.2147/TACG.S113310.

Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion.

White A, C Tchan M

JIMD reports 2018; (40()):7-9 doi:10.1007/8904_2017_56.

Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.

Khedr M, Judd S, Briggs MC, et al.

JIMD reports 2018; (40()):31-37 doi:10.1007/8904_2017_62.

Caregiver Quality of Life with Tyrosinemia Type 1.

Campbell H, Singh RH, Hall E, Ali N

Journal of genetic counseling 2018; (27(3)):723-731 doi:10.1007/s10897-017-0157-9.

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Baydakova GV, Ivanova TA, Mikhaylova SV, et al.

JIMD reports 2019; (45()):89-93 doi:10.1007/8904_2018_144.

Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.

Morrow G, Dreumont N, Bourrelle-Langlois M, et al.

Molecular genetics and metabolism 2019; (127(1)):58-63 doi:10.1016/j.ymgme.2019.01.019.

Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients.

Karaca CA, Yilmaz C, Farajov R, et al.

Pediatric transplantation 2019; (23(6)):e13498 doi:10.1111/petr.13498.

Efficacy of low dose nitisinone in the management of alkaptonuria.

Sloboda N, Wiedemann A, Merten M, et al.

Molecular genetics and metabolism 2019; (127(3)):184-190 doi:10.1016/j.ymgme.2019.06.006.

GSTZ1-1 Deficiency Activates NRF2/IGF1R Axis in HCC via Accumulation of Oncometabolite Succinylacetone.

Yang F, Li J, Deng H, et al.

The EMBO journal 2019; (38(15)):e101964 doi:10.15252/embj.2019101964.

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.

Hughes JH, Wilson PJM, Sutherland H, et al.

Journal of inherited metabolic disease 2020; (43(2)):259-268 doi:10.1002/jimd.12172.

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.

Ibarra-González I, Fernández-Lainez C, Alcántara-Ortigoza MA, et al.

Molecular genetics & genomic medicine 2019; (7(12)):e937 doi:10.1002/mgg3.937.

Heme as an initial treatment for severe decompensation in tyrosinemia type 1.

Neeleman RA, Wilson JHP, Williams M, Langendonk JG

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):437-438 doi:10.1038/s41436-019-0658-z.

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.

van Ginkel WG, Rodenburg IL, Harding CO, et al.

Paediatric drugs 2019; (21(6)):413-426 doi:10.1007/s40272-019-00364-4.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

van Vliet K, van Ginkel WG, Jahja R, et al.

Orphanet journal of rare diseases 2019; (14(1)):285 doi:10.1186/s13023-019-1259-2.

Oncometabolite modification of Keap1 links GSTZ1 deficiency with cancer.

Guo W, Zhou BP

Genes & diseases 2019; (6(4)):333-334 doi:10.1016/j.gendis.2019.10.005.

Nitisinone causes acquired tyrosinosis in alkaptonuria.

Khedr M, Cooper MS, Hughes AT, et al.

Journal of inherited metabolic disease 2020; (43(5)):1014-1023 doi:10.1002/jimd.12229.

Severe neurological crisis in adult patients with Tyrosinemia type 1.

Dawson C, Ramachandran R, Safdar S, et al.

Annals of clinical and translational neurology 2020; (7(9)):1732-1737 doi:10.1002/acn3.51160.

Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.

Yeo M, Turner C, Dalton NR, et al.

Annals of clinical biochemistry 2020; (57(6)):412-419 doi:10.1177/0004563220961760.

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.

Bärhold F, Meyer U, Neugebauer AK, et al.

Nutrients 2020; (13(1)) doi:10.3390/nu13010134.

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.

Dweikat I, Qawasmi N, Najeeb A, Radwan M

Metabolism open 2021; (9()):100083 doi:10.1016/j.metop.2021.100083.

Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I.

Gu P, Yang Q, Chen B, et al.

Molecular therapy. Methods & clinical development 2021; (21()):530-547 doi:10.1016/j.omtm.2021.04.002.

The Heterogeneity of Liver Cancer Metabolism.

Salazar J, Le A

Advances in experimental medicine and biology 2021; (1311()):127-136 doi:10.1007/978-3-030-65768-0_9.

Treatment adherence in tyrosinemia type 1 patients.

González-Lamuño D, Sánchez-Pintos P, Andrade F, et al.

Orphanet journal of rare diseases 2021; (16(1)):256 doi:10.1186/s13023-021-01879-1.

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review.

Daou KN, Barhoumi A, Bassyouni A, Karam PE

Frontiers in pediatrics 2021; (9()):698577 doi:10.3389/fped.2021.698577.

Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients.

Aktuglu Zeybek AC, Kiykim E, Neselioglu S, et al.

Pediatric research 2022; (92(2)):474-479 doi:10.1038/s41390-021-01770-6.

Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.

Tang Y, Kong Y

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021; (50(4)):514-523 doi:10.3724/zdxbyxb-2021-0255.

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

Škaričić A, Zekušić M, Fumić K, et al.

Clinical mass spectrometry (Del Mar, Calif.) 2019; (12()):1-6 doi:10.1016/j.clinms.2019.01.005.

Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.

Varughese B, Madrewar D, Polipalli SK, Kapoor S

Indian journal of clinical biochemistry : IJCB 2022; (37(1)):40-50 doi:10.1007/s12291-020-00944-z.

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant.

Sikonja J, Brecelj J, Zerjav Tansek M, et al.

Molecular genetics and metabolism reports 2022; (30()):100836 doi:10.1016/j.ymgmr.2021.100836.

Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?

Bolia R, Srivastava A

Indian journal of pediatrics 2022; (89(5)):427-428 doi:10.1007/s12098-022-04128-w.

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.

Bhushan S, Noble C, Balouch F, et al.

Pediatric transplantation 2022; (26(7)):e14334 doi:10.1111/petr.14334.

The Discovery of the Mode of Action of Nitisinone.

Lock EA

Metabolites 2022; (12(10)) doi:10.3390/metabo12100902.

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).

Chi H, Gan C, Jiang Y, et al.

Molecular genetics & genomic medicine 2023; (11(1)):e2090 doi:10.1002/mgg3.2090.

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.

Chen J, Sun J, Li X, Du M

BMC medical genomics 2022; (15(1)):251 doi:10.1186/s12920-022-01406-6.

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.

Neuckermans J, Lequeue S, Claes P, et al.

Genes 2023; (14(3)) doi:10.3390/genes14030693.

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.

Das AM, Ballhausen D, Haas D, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12824 doi:10.1002/jimd.12824.

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.

Kuypers AM, Bouva MJ, Loeber JG, et al.

International journal of neonatal screening 2024; (10(4)) doi:10.3390/ijns10040082.

Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.

Yazdani AH, Keyfi F, Nahid S, et al.

Biochemical genetics 2026; (64(2)):1572-1586 doi:10.1007/s10528-025-11102-6.

Nitisinone treatment protect hereditary tyrosinemia type I patients against inflammation, DNA and protein oxidative damage by decreasing succinylacetone levels.

Mascarello RB, Faverzani JL, Lopes FF, et al.

Metabolic brain disease 2025; (40(7)):275 doi:10.1007/s11011-025-01719-2.

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.

Saraceno E, Serra I, Bracci B, et al.

International journal of molecular sciences 2026; (27(2)) doi:10.3390/ijms27020660.