Tyrosinemia Medication

1. Iskeleli G, Bilgeç MD, Arici C, Atalay E, Ogreden T, Aydin A. Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion. Turk J Pediatr. 2011 Nov-Dec. 53(6):692-4. [QxMD MEDLINE Link].

2. Jorquera R, Tanguay RM. Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet. 2001 Aug 15. 10(17):1741-52. [QxMD MEDLINE Link].

3. Bliksrud YT, Ellingsen A, Bjørås M. Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. J Inherit Metab Dis. 2013 Sep. 36(5):773-8. [QxMD MEDLINE Link].

4. Li L, Zhang Q, Yang H, Zou Q, Lai C, Jiang F, et al. Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1. J Biol Chem. 2017 Mar 17. 292 (11):4755-4763. [QxMD MEDLINE Link].

5. Zhang QS, Tiyaboonchai A, Nygaard S, Baradar K, Major A, Balaji N, et al. Induced Liver Regeneration Enhances CRISPR/Cas9-Mediated Gene Repair in Tyrosinemia Type 1. Hum Gene Ther. 2021 Mar. 32 (5-6):294-301. [QxMD MEDLINE Link].

6. Maiorana A, Malamisura M, Emma F, et al. Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type I. Mol Genet Metab. November 2014. 113:188-193. [QxMD MEDLINE Link].

7. Larochelle J, Alvarez F, Bussières JF, et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab. 2012 Sep. 107(1-2):49-54. [QxMD MEDLINE Link].

8. Thimm E, Richter-Werkle R, Kamp G, et al. Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis. 2012 Mar. 35(2):263-8. [QxMD MEDLINE Link].

9. McKiernan PJ, Preece MA, Chakrapani A. Outcome of children with hereditary tyrosinemia following newborn screening. Arch Dis Child. August 2015. 100:738-741. [QxMD MEDLINE Link].

10. van Ginkel WG, Jahja R, Huijbregts SC, Daly A, MacDonald A, De Laet C, et al. Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Orphanet J Rare Dis. 2016 Jun 29. 11 (1):87. [QxMD MEDLINE Link].

11. García MI, de la Parra A, Arias C, Arredondo M, Cabello JF. Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet. Mol Genet Metab Rep. 2017 Jun. 11:12-16. [QxMD MEDLINE Link].

12. Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1. J Inherit Metab Dis. 2012 Mar 29. [QxMD MEDLINE Link].

13. Angeleri F, Bergeron A, Morrow, G, et al. Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinemia type I. JIMD Rep. 2015. 19:43-58. [QxMD MEDLINE Link].

14. Malik S, NiMhurchadha S, Jackson C, et al. Treatment adherence in type I hereditary tyrosinemia(HT1): a mixed-method investigation into the beliefs, attitudes and behavior of adolescent patients, their families and health-care team. JIMD Rep. 2015. 18:13-22. [QxMD MEDLINE Link].

15. Koelink CJ, van Hasselt P, van der Ploeg A, et al. Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?. Mol Genet Metab. 2006 Dec. 89(4):310-5. [QxMD MEDLINE Link].

16. Sniderman King L, Trahms C, Scott CR. Tyrosinemia type I(Internet). Gene Reviews{Internet}. July 2014. [QxMD MEDLINE Link]. [Full Text].

17. de Laet C, Dionisi-Vici C, Leonard JV, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013 Jan 11. 8:8. [QxMD MEDLINE Link]. [Full Text].

18. Laeremans H, Turner C, Andersson T, de Juan JAC, Gerrard A, Heiner-Fokkema MR, et al. Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples. JIMD Rep. 2020 May. 53 (1):90-102. [QxMD MEDLINE Link].

19. [Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. 2005 Jun. 41(6):1407-32. [QxMD MEDLINE Link].

20. Nitisinone: new drug. Type 1 tyrosinemia: an effective drug. Prescrire Int. 2007 Apr. 16(88):56-8. [QxMD MEDLINE Link].

21. Spiekerkoetter U, Couce ML, Das AM, de Laet C, Dionisi-Vici C, Lund AM, et al. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study. Lancet Diabetes Endocrinol. 2021 May 20. [QxMD MEDLINE Link].

22. Yilmaz O, Daly A, Pinto A, Ashmore C, Evans S, Gupte G, et al. Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1. Nutrients. 2020 Apr 19. 12 (4):[QxMD MEDLINE Link].

23. Schlune A, Thimm E, Herebian D, Spiekerkoetter U. Single dose NTBC-treatment of hereditary tyrosinemia type I. J Inherit Metab Dis. 2012 Feb 4. [QxMD MEDLINE Link].

24. Santra S, Preece MA, Hulton SA, McKiernan PJ. Renal tubular function in children with tyrosinaemia type I treated with nitisinone. J Inherit Metab Dis. 2008 Jun. 31(3):399-402. [QxMD MEDLINE Link].

25. Santra S, Baumann U. Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 2008 May. 9(7):1229-36. [QxMD MEDLINE Link].

26. Bendadi F, de Koning TJ, Visser G, et al. Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone. J Pediatr. 2013 Nov 14. [QxMD MEDLINE Link].

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article