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Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience [PDF]

JIMD Reports
Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood ...
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne deLaet   +7 more
doaj   +3 more sources

CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I. [PDF]

JHEP Rep
Background & Aims The therapeutic potential of CRISPR gene editing has been demonstrated in various animal models; however, little is known about its long-term consequences. This study seeks to bridge this gap by investigating the lasting consequences of
Chen T, Barzi M, Furey N, Kim HR, Pankowicz FP, Legras X, Elsea SH, Hurley AE, Yang D, Wheeler DA, Borowiak M, Bissig-Choisat B, Sumazin P, Bissig KD.   +13 more
europepmc   +2 more sources

Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate. [PDF]

J Biol Chem, 2019
More than 100 mutations in the gene encoding fumarylacetoacetate hydrolase (FAH) cause hereditary tyrosinemia type I (HT1), a metabolic disorder characterized by elevated blood levels of tyrosine.
Macias I, Laín A, Bernardo-Seisdedos G, Gil D, Gonzalez E, Falcon-Perez JM, Millet O.   +6 more
europepmc   +2 more sources

Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene

Stem Cell Research, 2021
Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient diagnosed as hereditary tyrosinemia type I (HT1) caused by FAH gene mutation.
Haiyan Zhang, Chen Liu, Yanyan Ma, Lin Lin, Yuqiang Lv, Min Gao, Zhongtao Gai, Yi Liu   +7 more
doaj   +2 more sources

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. [PDF]

Hum Mutat, 2016
Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide.
Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.   +24 more
europepmc   +2 more sources

Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. [PDF]

Sci Rep, 2016
Hereditary tyrosinemia type I (HT1) is caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (Fah). Fah-deficient mice and pigs are phenotypically analogous to human HT1, but do not recapitulate all the chronic features of the human disorder,
Zhang L, Shao Y, Li L, Tian F, Cen J, Chen X, Hu D, Zhou Y, Xie W, Zheng Y, Ji Y, Liu M, Li D, Hui L.   +13 more
europepmc   +2 more sources

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation [PDF]

BMC Genetics, 2001
Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
Baklouti Faouzi, Levy Harvey L, Bergeron Anne, Poudrier Jacques A, Dreumont Natacha, Tanguay Robert M   +5 more
doaj   +3 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

Orphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo, Valentina Villarreal, María Alejandra Guardiola, William Bachiller, Malory Moreno, Pedro Vargas, Lyssethe Juliana López   +6 more
doaj   +2 more sources

Dietary Considerations in Tyrosinemia Type I

Advances in Experimental Medicine and Biology, 2017
Since the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), life expectancy of HT1 patients greatly improved. However, due to treatment with NTBC, tyrosine concentrations greatly increase. As a consequence to possible neurocognitive problems, the main objective of dietary therapy in HT1 is to provide adequate ...
van Spronsen, Francjan J., van Rijn, Margreet, Meyer, Uta, Das, Anibh M.   +3 more
openaire   +3 more sources

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 [PDF]

International Journal of Neonatal Screening
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda, Maria Melanie Liberty B. Alcausin   +4 more
doaj   +2 more sources