U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tyrosinemia

MedGen UID:
78682
•Concept ID:
C0268483
•
Disease or Syndrome
Synonym: tyrosinemia
SNOMED CT: Tyrosinemia (190694001)
 
Monarch Initiative: MONDO:0004741
OMIM® Phenotypic series: PS276700

Definition

An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. [from MONDO]

Professional guidelines

PubMed

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR
Genet Med 2017 Dec;19(12) Epub 2017 Aug 3 doi: 10.1038/gim.2017.101. PMID: 28771246Free PMC Article
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Halac U, Dubois J, Mitchell GA
Adv Exp Med Biol 2017;959:75-83. doi: 10.1007/978-3-319-55780-9_6. PMID: 28755185

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022

American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022

American College of Medical Genetics and Genomics, Algorithm, Tyrosine Normal/Elevated, Succinylacetone Elevated, 2022

Recent clinical studies

Etiology

Pediatric hepatocellular carcinoma.
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR
Genet Med 2017 Dec;19(12) Epub 2017 Aug 3 doi: 10.1038/gim.2017.101. PMID: 28771246Free PMC Article
Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.
Mitchell GA, Yang H
Adv Exp Med Biol 2017;959:205-213. doi: 10.1007/978-3-319-55780-9_19. PMID: 28755198
The Québec NTBC Study.
Québec NTBC Study Group, Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF
Adv Exp Med Biol 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. PMID: 28755196

Diagnosis

Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ
Orphanet J Rare Dis 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. PMID: 32605583Free PMC Article
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR
Genet Med 2017 Dec;19(12) Epub 2017 Aug 3 doi: 10.1038/gim.2017.101. PMID: 28771246Free PMC Article
Hepatorenal tyrosinemia.
Kitagawa T
Proc Jpn Acad Ser B Phys Biol Sci 2012;88(5):192-200. doi: 10.2183/pjab.88.192. PMID: 22687740Free PMC Article

Therapy

Pediatric hepatocellular carcinoma.
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR
Genet Med 2017 Dec;19(12) Epub 2017 Aug 3 doi: 10.1038/gim.2017.101. PMID: 28771246Free PMC Article
Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.
Mitchell GA, Yang H
Adv Exp Med Biol 2017;959:205-213. doi: 10.1007/978-3-319-55780-9_19. PMID: 28755198
The Québec NTBC Study.
Québec NTBC Study Group, Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF
Adv Exp Med Biol 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. PMID: 28755196
NTBC and Correction of Renal Dysfunction.
Maiorana A, Dionisi-Vici C
Adv Exp Med Biol 2017;959:93-100. doi: 10.1007/978-3-319-55780-9_8. PMID: 28755187

Prognosis

Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Pediatric hepatocellular carcinoma.
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article
NTBC and Correction of Renal Dysfunction.
Maiorana A, Dionisi-Vici C
Adv Exp Med Biol 2017;959:93-100. doi: 10.1007/978-3-319-55780-9_8. PMID: 28755187
Hepatorenal tyrosinemia.
Kitagawa T
Proc Jpn Acad Ser B Phys Biol Sci 2012;88(5):192-200. doi: 10.2183/pjab.88.192. PMID: 22687740Free PMC Article
Tyrosinemia: a review.
Russo PA, Mitchell GA, Tanguay RM
Pediatr Dev Pathol 2001 May-Jun;4(3):212-21. doi: 10.1007/s100240010146. PMID: 11370259

Clinical prediction guides

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z, Nabavizadeh S, Karimzadeh S, Geramizadeh B
Orphanet J Rare Dis 2022 Dec 5;17(1):424. doi: 10.1186/s13023-022-02579-0. PMID: 36471409Free PMC Article
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR
Genet Med 2017 Dec;19(12) Epub 2017 Aug 3 doi: 10.1038/gim.2017.101. PMID: 28771246Free PMC Article
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Halac U, Dubois J, Mitchell GA
Adv Exp Med Biol 2017;959:75-83. doi: 10.1007/978-3-319-55780-9_6. PMID: 28755185
The genetic tyrosinemias.
Scott CR
Am J Med Genet C Semin Med Genet 2006 May 15;142C(2):121-6. doi: 10.1002/ajmg.c.30092. PMID: 16602095
Tyrosinemia: a review.
Russo PA, Mitchell GA, Tanguay RM
Pediatr Dev Pathol 2001 May-Jun;4(3):212-21. doi: 10.1007/s100240010146. PMID: 11370259

Recent systematic reviews

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Evers RAF, van Wegberg AMJ, MacDonald A, Huijbregts SCJ, Leuzzi V, van Spronsen FJ
Nutrients 2022 Sep 19;14(18) doi: 10.3390/nu14183874. PMID: 36145250Free PMC Article
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. PMID: 28274233Free PMC Article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
Zeltner NA, Huemer M, Baumgartner MR, Landolt MA
Orphanet J Rare Dis 2014 Oct 25;9:159. doi: 10.1186/s13023-014-0159-8. PMID: 25344299Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Tyrosine Normal/Elevated, Succinylacetone Elevated, 2022

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...