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Tyrosinemia Type 1 

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  1. 01-05-2022 | Liver Transplantation

    Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1

    Tyrosinemia is an inherited disorder of tyrosine metabolism and tyrosinemia type 1 (TT-1) is the most severe type with extensive clinical and pathological manifestations involving the liver, kidney, and peripheral nerves. It is an autosomal …

  2. Open Access 01-12-2021 | Tyrosinemia Type 1 | OriginalPaper

    Treatment adherence in tyrosinemia type 1 patients

    Hereditary tyrosinemia type 1 (OMIM #276700) (HT1) is an inborn error of tyrosine (Tyr) metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH, EC.3.7.1.2). More than 100 variants in the FAH gene, located on the long arm …

  3. 15-06-2022 | Liver Transplantation | Letter

    Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Correspondence

  4. 22-06-2022 | Liver Transplantation | Letter

    Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Authors’ Reply

  5. 01-05-2022 | Liver Transplantation

    Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?

  6. 16-03-2022 | Neonatal Screening | Letter

    Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol

  7. Open Access 01-12-2019 | Hepatocellular Carcinoma | OriginalPaper

    Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

    Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an …

  8. Open Access 01-12-2019 | Tyrosinemia Type 1 | OriginalPaper

    Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

    Tyrosinemia type 1 (TT1; McKusick 276,700) is an inborn error of tyrosine catabolism, caused by fumarylacetoacetate hydrolase deficiency. This causes accumulation of toxic metabolites which can result in liver failure and hepatocellular carcinoma …

  9. Open Access 01-12-2020 | Rickets | OriginalPaper

    Type 1 tyrosinemia in Finland: a nationwide study

    Tyrosinemia is an autosomal recessively inherited metabolic disease presenting with three clinically distinct subtypes. The majority of patients have type I tyrosinemia (TT1, OMIM 276,700), types II and III being extremely rare [ 1 – 3 ]. The …

  10. 01-06-2018 | OriginalPaper

    Caregiver Quality of Life with Tyrosinemia Type 1

    Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with …

  11. Open Access 01-12-2017 | ReviewPaper

    Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy

    Tyrosinemia type 1 (TYR1), also known as fumarylacetoacetase deficiency (Enzyme Commission Number 3.7.1.2), is an autosomal recessive disorder of amino acid metabolism. It is caused by a deficiency in the activity of fumarylacetoacetic hydrolase …

  12. Open Access 01-12-2017 | ReviewPaper

    Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

    Tyrosinemia type 1 (TYR1, OMIM 276700) is a rare autosomal recessive disorder of amino acid metabolism that is caused by a defect in the final enzyme of the pathway of tyrosine degradation, namely fumarylacetoacetate hydrolase (FAH) [ 1 ]. About …

  13. Open Access 01-03-2018 | OriginalPaper

    Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

    Hereditary tyrosinemia type 1 (HT1; McKusick 276,700) is a rare, autosomal recessive metabolic disorder caused by a deficiency of fumarylacetoacetate hydrolase, the last enzyme in the tyrosine catabolism pathway. This deficiency results in …

  14. Open Access 01-12-2016 | OriginalPaper

    Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

    Hereditary Tyrosinemia Type 1 (HT1; McKusick 27670) is an inborn error of tyrosine metabolism, caused by a deficiency of the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products such as maleylacetoacetate, fumarylacetoacetate …

  15. 01-10-2016 | BriefCommunication

    Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

    Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal …

  16. 01-12-2009 | OriginalPaper

    Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

    Uniparental isodisomy arises when an individual inherits two copies of a specific chromosome from a single parent, which can unmask a recessive mutation or cause a problem of genetic imprinting. Here we describe an exceptional case in which the …

  17. 01-05-2010 | OriginalPaper

    Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

    Hereditary tyrosinemia type 1 (HT1; or hepatorenal tyrosinemia, OMIM 276700) is an inherited, life-threatening disease caused by deficiency of fumarylacetoacetate hydroxylase, the last enzyme of the tyrosine degradation pathway [ 4 ] (Fig. 1 ).

  18. 01-08-2011 | OriginalPaper

    Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases

  19. 01-05-2012 | OriginalPaper

    Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 – a hypothesis

    Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder affecting fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine catabolism pathway. The liver mosaicism observed in HT1 patients is due to the reversion to the …

  20. 01-09-2012 | OriginalPaper

    Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines

    The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a treatment for hereditary tyrosinemia type 1 (HT-1), a disorder of tyrosine catabolism, has radically modified the natural history of this disorder.

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