Skip to main content
SpringerLink
Log in

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

  • Research Report
  • Chapter
  • First Online:
JIMD Reports, Volume 19

Part of the book series: JIMD Reports ((JIMD,volume 19))

Abstract

Hereditary tyrosinemia type 1 (HT1) (OMIM 276700) is a severe inherited metabolic disease affecting mainly hepatic and renal functions that leads to a fatal outcome if untreated. HT1 results from a deficiency of the last enzyme of tyrosine catabolism, fumarylacetoacetate hydrolase (FAH). Biochemical findings include elevated succinylacetone in blood and urine; elevated plasma concentrations of tyrosine, methionine and phenylalanine; and elevated tyrosine metabolites in urine. The HT1 frequency worldwide is about 1 in 100,000 individuals. In some areas, where the incidence of HT1 is noticeably higher, prevalence of characteristic mutations has been reported, and the estimated incidence of carriers of a specific mutation can be as high as 1 out of 14 adults. Because the global occurrence of HT1 is relatively low, a considerable number of cases may go unrecognized, underlining the importance to establish efficient prenatal and carrier testing to facilitate an early detection of the disease. Here we describe the 95 mutations reported so far in HT1 with special emphasis on their geographical and ethnic distributions. Such information should enable the establishment of a preferential screening process for mutations most predominant in a given region or ethnic group.

Competing interests: None declared

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

BCH:

Birmingham Children’s Hospital

FAH:

Fumarylacetoacetate hydrolase

GTR:

Genetic Testing Registry

HCC:

Hepatocellular carcinoma

HT1:

Hereditary tyrosinemia type 1

LGCD:

Laboratory of Cell and Developmental Genetics

NTBC:

2-(2-Nitro-trifluoromethylbenzoyl) 1,3-cyclohexanedione

SLSJ:

Saguenay-Lac-St-Jean region

References

  • Al-Shamsi A, Hertecant JL, Al-Hamad S, Souid AK, Al-Jasmi F (2014) Mutation spectrum and birth prevalence of inborn errors of metabolism among Emiratis: a study from Tawam Hospital Metabolic Center, United Arab Emirates. Sultan Qaboos Univ Med J 14(1):e42–e49

    Article  PubMed Central  PubMed  Google Scholar 

  • Arranz JA, Pinol F, Kozak L et al (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat 20(3):180–188

    Article  CAS  PubMed  Google Scholar 

  • Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I (1994) Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim Biophys Acta 1226(2):168–172

    Article  CAS  PubMed  Google Scholar 

  • Barnby E (2014) Tyrosinemia type 1: an overview of nursing care. Pediatr Nursing 40(2):61–68

    Google Scholar 

  • Bartlett DC, Lloyd C, McKiernan PJ, Newsome PN (2014) Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function. J Inherit Metab Dis 37(5):745–752.

    Article  CAS  PubMed  Google Scholar 

  • Berger R, Smit GP, Stoker-de Vries SA, Duran M, Ketting D, Wadman SK (1981) Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. Clin Chim Acta 114(1):37–44

    Article  CAS  PubMed  Google Scholar 

  • Bergeron A, D’Astous M, Timm DE, Tanguay RM (2001) Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. J Biol Chem 276(18):15225–15231

    Article  CAS  PubMed  Google Scholar 

  • Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R (1998) Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Hum Mutat 12(1):19–26

    Article  CAS  PubMed  Google Scholar 

  • Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA (2005) Tyrosinaemia type I–de novo mutation in liver tissue suppressing an inborn splicing defect. J Mol Med (Berl) 83(5):406–410

    Article  CAS  Google Scholar 

  • Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H (2012) Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. Scand J Clin Lab Invest 72(5):369–373

    Article  CAS  PubMed  Google Scholar 

  • Cao YY, Zhang YL, Du J et al (2012) Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. Chin Med J (Engl) 125(12):2132–2136

    CAS  Google Scholar 

  • Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J (2009) A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. Orphanet J Rare Dis 4:28

    Article  PubMed Central  PubMed  Google Scholar 

  • Choi HJ, Bang HI, Ki CS et al (2014) Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. Ann Clin Lab Sci 44(3):317–323

    CAS  PubMed  Google Scholar 

  • Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldamiz-Echevarria L (2011) Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. Pediatr Int 53(6):985–989

    Article  CAS  PubMed  Google Scholar 

  • De Braekeleer M, Larochelle J (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 47(2):302–307

    PubMed Central  PubMed  Google Scholar 

  • de Laet C, Dionisi-Vici C, Leonard JV et al (2013) Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis 8:8

    Article  PubMed Central  PubMed  Google Scholar 

  • Dehghani SM, Haghighat M, Imanieh MH, Karamnejad H, Malekpour A (2013) Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation. Int J Prev Med 4(12):1380–1385

    PubMed Central  PubMed  Google Scholar 

  • den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15(1):7–12

    Article  Google Scholar 

  • Dou LM, Fang LJ, Wang XH et al (2013) Mutation analysis of FAH gene in patients with tyrosinemia type 1. Zhonghua Er Ke Za Zhi 51(4):302–307

    PubMed  Google Scholar 

  • Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM (2001) A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. BMC Genet 2:9

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Dursun A, Ozgul RK, Sivri S et al (2011) Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. JIMD Rep 1:17–21

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Elpeleg ON, Shaag A, Holme E et al (2002) Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. Hum Mutat 19(1):80–81

    Article  PubMed  Google Scholar 

  • Fällström S-P, Lindblad B, Lindstedt S, Steen G (1979) Hereditary tyrosinemia-fumarylacetoacetase deficiency. Pediatr Res 13:78

    Article  Google Scholar 

  • Georgouli H, Schulpis KH, Michelakaki H, Kaltsa M, Sdogou T, Kossiva L (2010) Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1. BMJ Case Rep 2010. pii: bcr0720103150. doi:10.1136/bcr.07.2010.3150

  • Grompe M, al-Dhalimy M (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Hum Mutat 2(2):85–93

    Article  CAS  PubMed  Google Scholar 

  • Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med 331(6):353–357

    Google Scholar 

  • Haghighi-Kakhki H, Rezazadeh J, Ahmadi-Shadmehri A (2014) Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. J Pediatr Endocrinol Metab. doi:10.1515/jpem-2013-0489

  • Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Hum Mutat 6(1):66–73

    Article  CAS  PubMed  Google Scholar 

  • Heath SK, Gray RG, McKiernan P, Au KM, Walker E, Green A (2002) Mutation screening for tyrosinaemia type I. J Inherit Metab Dis 25(6):523–524

    Article  CAS  PubMed  Google Scholar 

  • Hutchesson AC, Hall SK, Preece MA, Green A (1996) Screening for tyrosinaemia type I. Arch Dis Child Fetal Neonatal Ed 74(3):F191–F194

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Hutchesson AC, Bundey S, Preece MA, Hall SK, Green A (1998) A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. J Med Genet 35(5):366–370

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Imtiaz F, Rashed MS, Al-Mubarak B et al (2011) Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Mol Genet Metab 104(4):688–690

    Article  CAS  PubMed  Google Scholar 

  • Jitraruch S, Treepongkaruna S, Teeraratkul S et al (2011) Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report. J Med Assoc Thai 94(10):1276–1280

    PubMed  Google Scholar 

  • Kim SZ, Kupke KG, Ierardi-Curto L et al (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. J Inherit Metab Dis 23(8):791–804

    Article  CAS  PubMed  Google Scholar 

  • Kvittingen EA, Jellum E, Stokke O (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. Clin Chim Acta 115(3):311–319.

    Article  CAS  PubMed  Google Scholar 

  • la Marca G, Malvagia S, Pasquini E et al (2011) Newborn screening for tyrosinemia type I: further evidence that succinylacetone determination on blood spot is essential. JIMD Rep 1:107–109

    Article  PubMed Central  PubMed  Google Scholar 

  • Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 2(7):941–946

    Article  CAS  PubMed  Google Scholar 

  • Larochelle J, Alvarez F, Bussieres JF et al (2012) Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 107(1–2):49–54

    Article  CAS  PubMed  Google Scholar 

  • Laszlo A, Rozsa M, Sallay E et al (2013) The fate of tyrosinaemic Hungarian patients before the NTBC aera. Ideggyogy Sz 66(11–12):415–419

    PubMed  Google Scholar 

  • Lindblad B, Lindstedt S, Steen G (1977) On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 74(10):4641–4645

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Lindstedt S, Holme E, Lock EA, Hjalmarrson T, Strandvik B (1992) Treatment of hereditary tyrosinemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813–817

    Article  CAS  PubMed  Google Scholar 

  • Mak CM, Lam CW, Chim S, Siu TS, Ng KF, Tam S (2013) Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong Chinese patient: recommendation for expanded newborn screening in Hong Kong. Clin Biochem 46(1–2):155–159

    Article  CAS  PubMed  Google Scholar 

  • Mayorandan S, Meyer U, Gokcay G et al (2014) Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis 9(1):107

    Article  PubMed Central  PubMed  Google Scholar 

  • Mitchell GA, Grompe M, Lambert H, Tanguay RM (2001) Hypertyrosinemia.In: The metabolic and molecular bases of inherited diseases. McGrawHill, New York, pp 1777–1805

    Google Scholar 

  • Mohamed S, Kambal MA, Al Jurayyan NA et al (2013) Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. BMC Res Notes 6(1):362

    Article  PubMed Central  PubMed  Google Scholar 

  • Morrissey MA, Sunny S, Fahim A, Lubowski C, Caggana M (2011) Newborn screening for Tyr-I: two years’ experience of the New York State program. Mol Genet Metab 103(2):191–192

    Article  CAS  PubMed  Google Scholar 

  • Mustonen A, Ploos van Amstel HK, Berger R, Salo MK, Viinikka L, Simola KO (1997) Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1. Prenat Diagn 17(10):964–966

    Article  CAS  PubMed  Google Scholar 

  • Park HD, Lee DH, Choi TY et al (2009) Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1. Clin Chem Lab Med 47(8):930–933

    Article  CAS  PubMed  Google Scholar 

  • Perez-Carro R, Sanchez-Alcudia R, Perez B et al (2013) Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. Clin Genet. doi:10.1111/cge.12243

    PubMed  Google Scholar 

  • Phaneuf D, Labelle Y, Berube D et al (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet 48(3):525–535

    PubMed Central  CAS  PubMed  Google Scholar 

  • Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 90(4):1185–1192

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Ploos van Amstel JK, Bergman AJ, van Beurden EA et al (1996) Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype–phenotype relationship. Hum Genet 97(1):51–59

    Article  CAS  PubMed  Google Scholar 

  • Poudrier J, St-Louis M, Lettre F, et al (1996) Frequency of the IVS12 + 5G>A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean. Prenat Diagn 16(1): 59–64

    Google Scholar 

  • Poudrier J, Lettre F, St-Louis M, Tanguay RM (1999) Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid. Prenat Diagn 19(1):61–63

    Article  CAS  PubMed  Google Scholar 

  • Prieto-Alamo MJ, Laval F (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. Proc Natl Acad Sci U S A 95(21):12614–12618

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Rootwelt H, Berger R, Gray G, Kelly DA, Coskun T, Kvittingen EA (1994a) Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. Am J Hum Genet 55(4):653–658

    PubMed Central  CAS  PubMed  Google Scholar 

  • Rootwelt H, Brodtkorb E, Kvittingen EA (1994b) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. Am J Hum Genet 55(6):1122–1127

    PubMed Central  CAS  PubMed  Google Scholar 

  • Rootwelt H, Chou J, Gahl WA et al (1994c) Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. Hum Genet 93(6):615–619

    Article  CAS  PubMed  Google Scholar 

  • Rootwelt H, Kristensen T, Berger R, Hoie K, Kvittingen EA (1994d) Tyrosinemia type 1–complex splicing defects and a missense mutation in the fumarylacetoacetase gene. Hum Genet 94(3):235–239

    Article  CAS  PubMed  Google Scholar 

  • Rootwelt H, Hoie K, Berger R, Kvittingen EA (1996) Fumarylacetoacetase mutations in tyrosinaemia type I. Hum Mutat 7(3):239–243

    Article  CAS  PubMed  Google Scholar 

  • Russo PA, Mitchell GA, Tanguay RM (2001) Tyrosinemia: a review. Pediatr Dev Pathol 4(3):212–221

    Article  CAS  PubMed  Google Scholar 

  • Sakai K, Kitagawa T (1957) An atypical case of tyrosinosis (1-Parahydroxyphenyl-lactic aciduria) Part 1. Clinical and laboratory findings. Jikei Med J 2:1–5

    Article  Google Scholar 

  • Seda Neto J, Leite KM, Porta A et al (2014) HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. Pediatr Blood Cancer. doi:10.1002/pbc.25094

    PubMed  Google Scholar 

  • Sheth JJ, Ankleshwaria CM, Pawar R, Sheth FJ (2012) Identification of novel mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. Case Rep Genet 2012:428075

    PubMed Central  PubMed  Google Scholar 

  • Sniderman King L, Trahms C, Scott CR (2011) Tyrosinemia type 1. Retrieved from GeneReviews® June 2014 http://www.ncbi.nlm.nih.gov/books/NBK1515/)

  • St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet 3(1):69–72

    Article  CAS  PubMed  Google Scholar 

  • St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay RM (1995) Two novel mutations involved in hereditary tyrosinemia type I. Hum Mol Genet 4(2):319–320

    Article  CAS  PubMed  Google Scholar 

  • St-Louis M, Tanguay RM (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I:overview. Hum Mutat 9(4):291–299.

    Article  CAS  PubMed  Google Scholar 

  • Tanguay RM, Valet JP, Lescault A et al (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet 47(2):308–316

    PubMed Central  CAS  PubMed  Google Scholar 

  • Timmers C, Grompe M (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. Hum Mutat 7(4):367–369

    Article  CAS  PubMed  Google Scholar 

  • van Spronsen FJ, Thomasse Y, Smit GP et al (1994) Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20(5):1187–1191

    Article  PubMed  Google Scholar 

  • Vondrackova A, Tesarova M, Magner M et al (2010) Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I. Cas Lek Cesk 149(9):411–416

    PubMed  Google Scholar 

  • Yang N, Han LS, Ye J et al (2012) Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29(6):648–652

    CAS  PubMed  Google Scholar 

  • Zytkovicz TH, Sahai I, Rush A et al (2013) Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program. Clin Biochem 46(7–8):681–684

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

Work on HT1 was supported by the Canadian Institutes for Health Research (grant to RMT, studentship to AB and postdoctoral fellowship to FA).

Author information

Authors and Affiliations

  1. Laboratory of Cell and Developmental Genetics, Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, IBIS and PROTEO, Pav CE-Marchand, Université Laval, 1030 avenue de la Médecine, Québec, QC, Canada, G1V 0A6

    Francesca Angileri, Anne Bergeron, Geneviève Morrow, Francine Lettre & Robert M. Tanguay

  2. Department of Clinical Chemistry, Birmingham Children’s Hospital, Birmingham, UK

    George Gray, Tim Hutchin & Sarah Ball

Authors
  1. Francesca Angileri
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anne Bergeron
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Geneviève Morrow
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Francine Lettre
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. George Gray
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Tim Hutchin
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sarah Ball
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Robert M. Tanguay
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Robert M. Tanguay .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

    Matthias Baumgartner

  3. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava

  4. Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

    Marc Patterson

  5. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  6. Centre for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Bridget Wilcken

Appendices

Synopsis

Geographical and ethnic distribution of mutations in hereditary tyrosinemia type 1

Compliance with Ethics Guidelines

Conflict of Interest

Francesca Angileri, Anne Bergeron, Geneviève Morrow, Francine Lettre, George Gray, Tim Hutchin, Sarah Ball and Robert M. Tanguay declare that they have no conflict of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration as revised in 2013.

Animal Rights

This article does not contain any studies with animal subjects performed by any of the authors.

Author’s Contributions

AB and FA contributed equally to this review. AB, FA and SB did the literature review and contributed to the draft of the manuscript. FL, TH and SB performed mutational analysis in some patients. RMT, GM and GG designed the review and worked on the draft of the manuscript. All authors read and approved the final manuscript.

Rights and permissions

Reprints and permissions

Copyright information

© 2014 SSIEM and Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Angileri, F. et al. (2014). Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 19. JIMD Reports, vol 19. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_363

Download citation

  • DOI: https://doi.org/10.1007/8904_2014_363

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-46189-1

  • Online ISBN: 978-3-662-46190-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation