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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   +8 more sources

Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study [PDF]

International Journal of Pediatrics, 2021
Background. Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. The accumulation of tyrosine toxic metabolites leads to progressive hepatic, renal, and neurological ...
Noor A. Megdadi, Ahmad K. Almigdad, Mo’men O. Alakil, Shahrazad M. Alqiam, Sumaia G. Rababah, Moshera A. Dwiari   +5 more
doaj   +6 more sources

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1 [PDF]

Metabolism Open, 2021
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to ...
Imad Dweikat, Nada Qawasmi, Aysha Najeeb, Mohammad Radwan   +3 more
doaj   +5 more sources

Generation of immunodeficient pig with hereditary tyrosinemia type 1 and their preliminary application for humanized liver [PDF]

Cell & Bioscience, 2022
Background Mice with humanized livers are important models to study drug toxicology testing, development of hepatitis virus treatments, and hepatocyte transplantation therapy.
Jilong Ren, Dawei Yu, Jing Wang, Kai Xu, Yanan Xu, Renren Sun, Peipei An, Chongyang Li, Guihai Feng, Ying Zhang, Xiangpeng Dai, Hongye Zhao, Zhengzhu Wang, Zhiqiang Han, Haibo Zhu, Yuchun Ding, Xiaoyan You, Xueqin Liu, Meng Wu, Lin Luo, Ziyi Li, Yong-Guang Yang, Zheng Hu, Hong-jiang Wei, Liangpeng Ge, Tang Hai, Wei Li   +26 more
doaj   +6 more sources

Progress in Gene Therapy for Hereditary Tyrosinemia Type 1 [PDF]

Pharmaceutics
Hereditary Tyrosinemia Type-1 (HT1), an inherited error of metabolism caused by a mutation in the fumarylacetoacetate hydrolase gene, is associated with liver disease, severe morbidity, and early mortality.
Helen Thomas, Robert C. Carlisle
doaj   +6 more sources

Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1 [PDF]

Hepatology Communications
Background:. We previously demonstrated the successful use of in vivo CRISPR gene editing to delete 4-hydroxyphenylpyruvate dioxygenase (HPD) to rescue mice deficient in fumarylacetoacetate hydrolase (FAH), a disorder known as hereditary tyrosinemia type
Ilayda Ates, Callie Stuart, Tanner Rathbone, Mercedes Barzi, Gordon He, Angela M. Major, Vijay Shankar, Rachel A. Lyman, Sidney S. Angner, Trudy F.C. Mackay, Shanthi Srinivasan, Alton Brad Farris, Karl-Dimiter Bissig, Renee N. Cottle   +13 more
doaj   +5 more sources

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1) [PDF]

The Application of Clinical Genetics, 2017
Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Das AM
doaj   +9 more sources

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions [PDF]

Nature Communications, 2022
Hereditary tyrosinemia type 1 (HT1) is an inborn error of metabolism caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Here, the authors show in an animal model that HT1 can be treated via in vivo portal vein administration of a lentiviral ...
Clara T. Nicolas, Caitlin J. VanLith, Raymond D. Hickey, Zeji Du, Lori G. Hillin, Rebekah M. Guthman, William J. Cao, Benjamin Haugo, Annika Lillegard, Diya Roy, Aditya Bhagwate, Daniel O’Brien, Jean-Pierre Kocher, Robert A. Kaiser, Stephen J. Russell, Joseph B. Lillegard   +15 more
doaj   +4 more sources

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1) [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Hereditary tyrosinemia type 1 (HT1) is a rare inherited metabolic disease characterized by severe liver and renal dysfunction. Early identification in affected children is critical for improved treatment options and prognosis.
Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li   +10 more
doaj   +3 more sources

Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways [PDF]

Genes and Diseases, 2023
Colemonts-Vroninks Haaike, Norman P. Brendan, Van Laere Sven, Davison S. Andrew, Marcélis Lionel, Casimir Georges, Goyens Philippe, Claes Paul, De Bundel Dimitri, Martens Geert, Ranganath Lakshminarayan Rao, Vanhaecke Tamara, Gallagher James A, De Kock Joery   +13 more
doaj   +3 more sources