Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico

Fernández-Lainez, Cynthia; Ibarra-González, Isabel; Belmont-Martínez, Leticia; Monroy-Santoyo, Susana; Guillén-López, Sara; Vela-Amieva, Marcela

doi:10.1016/s1665-2681(19)30890-7

Cited by 15 publications

(8 citation statements)

References 28 publications

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“…Few reports on the outcome of HT1 from Arab countries are available, mainly from Egypt (12), Saudi Arabia (13), Tunisia (14), and Sudan (15). Furthermore, some developing countries, like Mexico (16,17), still struggle to diagnose early HT1 patients and offer them nitisinone, an expensive lifelong medical therapy. The aim of this study is to report the diagnostic and therapeutic challenges of a series of HT1 patients and their outcome over a 12-year-period, in a tertiary care center in Lebanon.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities. Nowadays, early diagnosis and therapy with nitisinone can reverse the clinical picture. In developing countries, diagnostic and therapeutic challenges may affect the outcome of this disease. The choice of the treatment modality may depend on the economic status of each country. Few reports on the long-term outcome of hereditary tyrosinemia type 1 are available from developing and Arab countries.Methods: A retrospective study of charts of Lebanese patients diagnosed with tyrosinemia type 1 and followed, at the American University of Beirut, during a 12-year period was performed. Clinical presentation and liver biochemical profile at diagnosis were analyzed, along with therapeutic modalities and long-term outcome.Results: Twenty-two children were diagnosed and followed during the study period. Median age at diagnosis was 7 months (range: one day to 35 months). Most of the patients presented with hepatomegaly and jaundice. Four patients were referred for atypical presentations with developmental delay and seizures, secondary to undiagnosed hypoglycemia episodes. Around half of the patients presented with failure to thrive. Transaminitis, cholestasis and increased α-fetoprotein level were variably present at diagnosis (36% to 50%). All patients had elevated plasma tyrosine and urinary succinylacetone levels. Genetic testing was performed in 9%. Only one third could be treated with nitisinone. Liver transplant was electively performed in 9% of cases, to overcome the long-term cost of nitisinone. One third of the patients died between the age of 1 month and 11 years. Surviving patients are still candidates for liver transplant.Conclusion: Our experience reflects the challenges of diagnosis and treatment of hereditary tyrosinemia type 1 in a developing country. In the absence of specific neonatal screening, early diagnosis relies mostly on the clinical awareness of the physician. Long-term nitisinone use may be deterred by its high cost and liver transplantation carries risks of surgical complications. New, effective, and less expensive treatments are needed, especially for developing countries.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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“…The most popular treatment is composed of 2-(2-nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC) and a diet low in tyrosine and phenylalanine. Therefore early diagnosis and therapy can be very crucial in improving outcome ( 9 ).…”

Section: Discussionmentioning

confidence: 99%

A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I

et al. 2016

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Background:Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine.Objectives:In this study we wanted to evaluate an easy to perform, rapid and sensitive qualitative test with low cost, as a part of neonatal screening tests to help early diagnosis and treatment of hereditary tyrosinemia.Patients and Methods:In this cross sectional study, during the study period (2013 - 2014), 100 patients were selected. Fifty three (53) of these patients had proven tyrosinemia and the other 47 cases biliary atresia, paucity of intrahepatic bile ducts, cytomegalovirus (CMV) hepatitis, galactosemia and storage diseases. Results:There were 2 false negative and 14 false positive cases of hereditary tyrosinemia (HT-1) in the test. Six cases of biliary atresia, 7 cases of paucity of intrahepatic bile ducts and one patient with cytomegalovirus (CMV) hepatitis were falsely positive with the test. Sensitivity of the test was 96.23%, specificity 71.43%, positive predictive value (PPV) 78.46%, and negative predictive value (NPV) 94.59%.Conclusions:This rapid qualitative test on dried blood sample is an easy, cheap, and feasible method for the screening of hereditary tyrosinemia in neonatal period.

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“…Представляют проблему также такие почечные проявления, как проксимальная тубулопатия. У пациентов наблюдается нарушение функции реабсорбции в почечных канальцах, приводящее к синдрому Фанкони, ацидозу, генерализованной аминоацидурии, резистентному к витамину D гипофосфатемическому рахиту и задержке роста [39,40].…”

Section: оригинальные статьиunclassified

“…Ортотопическая трансплантация печени проводится в наиболее тяжелых случаях наследственной тирозинемии 1-го типа из-за рисков, связанных с операцией. Ортотопическая трансплантация печени по существу излечивает, но не полностью корректирует метаболические нарушения при наследственной тирозинемии 1-го типа, поскольку почки продолжают выделять сукцинилацетоацетат, сукцинилацетон и δ-аминолевулиновуло кислоту с мочой [39,49,50]. Только у 50% пациентов с трансплантированной печенью наблюдается частичное улучшение функции почек, но все еще сохраняется изменение их размера и структуры [39].…”

Section: оригинальные статьиunclassified

Hereditary tyrosinemia type 1 in children

Волынец

Никитин

Skvortsova³

2019

Ross. vestn. perinatol. pediatr.

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Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) – the last enzyme of tyrosine catabolic pathway. Tyrosinemia type 1 is an autosomal recessive disorder. This paper presents a review of literature on the current state of diagnosticis and approaches to treatment of tyrosinemia using nitisinone and a low-protein diet, as well as the analysis of clinical manifestations and laboratory diagnostics of hereditary tyrosinemia type 1 in 17 children.

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Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico

Cited by 15 publications

References 28 publications

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

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

A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I

Hereditary tyrosinemia type 1 in children

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