Abstract
Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy. Its clinical diagnosis is difficult because of its low prevalence and heterogeneous symptoms. In developed countries, expanded newborn screening, based on succinylacetone quantification by tandem mass spectrometry, has been very valuable in the early detection of hepatorenal tyrosinemia, providing the opportunity for rapid treatment of affected patients. In developing countries without systematic expanded newborn screening, however, diagnosis and treatment of this disease remain major challenges, as genetic diseases in these countries are not a health priority and there are few referral centers for infants with inherited errors of metabolism. This chapter describes the diagnosis, follow-up and outcome of 20 Mexican patients with hepatorenal tyrosinemia. This chapter also constitutes a call to action to pediatricians, gastroenterologists, geneticists and other health professionals, and to academic organizations, health authorities and patient advocacy groups, to promote early patient detection and treatment, reducing the unacceptably high mortality rate (75%) in Mexican infants with this potentially deadly but eminently treatable condition.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Abbreviations
- GC/MS:
-
Gas chromatography
- HCC:
-
Hepatocellular carcinoma
- HPLC:
-
High performance liquid chromatography
- IEM:
-
Inherited error of metabolism
- MS/MS:
-
Tandem mass spectrometry
- SA:
-
Succinylacetone
References
Acosta PB, Matalon KM (2012) Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. In: Acosta PB (ed) Nutrition management of patients with inherited metabolic disorders. Jones and Bartlett Publishers, Sudbury, pp 153–174
Angileri F, Bergeron A, Morrow G, Lettre F, Gray G, Hutchin T, Ball S, Tanguay RM (2015) Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinemia type 1. JIMD Rep 19:43–58
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
Borrajo GJ (2007) Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis 30(4):466–481
Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L, Spanish Working Group on Tyrosinemia type 1 (2011) Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. Pediatr Int 53(6):985–989
Declaration of common principles on centres of expertise and European reference networks for rare diseases. http://www.eurordis.org/sites/default/files/publications/Declaration_Centres%20of%20Expertise-nov08.pdf
Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M (2014) Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico. Ann Hepatol 13(2):265–272
Fisch RO, McCabe ER, Doeden D, Koep LJ, Kohlhoff JG, Silverman A, Starzl TE (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. J Pediatr 93(4):592–596
Giugliani R (2010) Inborn errors of metabolism in Latin America: challenges and opportunities. J Inherit Metab Dis 33(Suppl 2):S315–S320
Halvorsen S, Kvittingen EA, Flatmark A (1988) Outcome of therapy of hereditary tyrosinemia. Acta Paediatr Jpn 30(4):425–428
Ibarra-González I, Fernández-Lainez C, Reyes-González DI, Belmont-Martínez L, Guillén-López S, Monroy-Santoyo S, Vela-Amieva M (2014a) Inborn errors of intermediary metabolism in critically ill mexican newborns. JIEMS 2:1–7. doi:10.1177/2326409814529649
Ibarra-González I, Fernández-Lainez C, Belmont-Martínez L, Guillén-López S, Monroy-Santoyo S, Vela-Amieva M (2014b) Characterization of inborn errors of intermediary metabolism in Mexican patients. An Pediatr (Barc) 80(5):310–316. [article in Spanish]
Larochelle J, Alvarez F, Bussieres JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melancon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA (2012) Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 107(1–2):49–54
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340(8823):813–817
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan J, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM (2014) Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis 9:107
Mitchell GA, Larochelle J, Lambert M, Michaud J, Grenier A, Ogier H, Gauthier M, Lacroix J, Vanasse M, Larbrisseau A, Paradis K, Weber A, Lefevre Y, Melançon S, Dallaire L (1990) Neurologic crisis in hereditary tyrosinemia. N Engl J Med 322(7):432–437
Mitchell GA, Lambert M, Tanguay RM (1995) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1077–1106
Mitchell GA, Grompe M, Lambert M, Tanguay RM (2001) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1177–1805
Perry TL (1967) Tyrosinemia associated with hypermethioninemia and islet cell hyperplasia. Can Med Assoc J 97(18):1067–1075
Raimann E, Cornejo V, Arias C, Cabello JF, Castro G, Fernández E, de la Parra A (2012) Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC). Rev Med Chil 140(2):169–175. [article in Spanish]
Russo P, O’Regan S (1990) Visceral pathology of hereditary tyrosinemia type I. Am J Hum Genet 47(2):317–324
Seda Neto J, Leite KM, Porta A, Fonseca EA, Feier FH, Pugliese R, Miura IK, Chapchap P, Porta G (2014) HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. Pediatr Blood Cancer 61(6):1584–1589
Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, Adams J (2015) Current status of newborn screening worldwide: 2015. Semin Perinatol 39(3):171–187
Varela-Fascinetto G, Hernández-Plata JA, Nieto-Zermeño J, Alcántar-Fierros JM, Fuentes-García V, Castañeda-Martínez P, Valencia-Mayoral P, Salgado-Ramírez JM (2011) Pediatric liver transplant program at Hospital Infantil de Mexico Federico Gomez. Rev Investig Clin 63(Suppl. 1):57–61. [article in Spanish]
Vela-Amieva M, Belmont-Martínez L, Ibarra-González I, Fernández-Lainez C (2009) Variabilidad interinstitucional del tamiz neonatal en México. Bol Med Hosp Infant Mex 66(5):431–439. [article in Spanish]
Velázquez A, Vela-Amieva M, Cicerón-Arellano I, Ibarra-González I, Pérez-Andrade ME, Olivares-Sandoval Z, Jiménez-Sánchez G (2000) Diagnosis of inborn errors of metabolism. Arch Med Res 31(2):145–150
Zeybek AC, Kiykim E, Soyucen E, Cansever S, Altay S, Zubarioglu T, Erkan T, Aydin A (2015) Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience. Pediatr Int 57(2):281–289
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer International Publishing AG
About this chapter
Cite this chapter
Ibarra-González, I., Ridaura-Sanz, C., Fernández-Lainez, C., Guillén-López, S., Belmont-Martínez, L., Vela-Amieva, M. (2017). Hepatorenal Tyrosinemia in Mexico: A Call to Action. In: Tanguay, R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. https://doi.org/10.1007/978-3-319-55780-9_14
Download citation
DOI: https://doi.org/10.1007/978-3-319-55780-9_14
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-55779-3
Online ISBN: 978-3-319-55780-9
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)