Results 11 to 20 of about 2,341 (138)

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

Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. [PDF]

Sci Transl Med, 2016
Transplantation of gene-corrected autologous hepatocytes can cure metabolic disease in a preclinical pig model of hereditary tyrosinemia type 1.
Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, O'Connor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL.   +21 more
europepmc   +6 more sources

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening [PDF]

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff   +15 more
doaj   +2 more sources

Revisiting hereditary tyrosinemia Type 1-spectrum of radiological findings. [PDF]

BJR Case Rep, 2019
Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling ...
Shaikh S, Qureshi A, Faiq SM.
europepmc   +3 more sources

Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report. [PDF]

Cureus
The etiology of hereditary tyrosinemia type 1 (HT-1) is the absence of fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last stage of the tyrosine breakdown process. With an autosomal recessive inheritance pattern, it is an uncommon genetic condition. We present a case of HT-1 in a three-year-old female child characterized by abdominal
Ilyaz M, Jadhav RS, Pande V, Mane S, Mokkarala P.   +4 more
europepmc   +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

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1. [PDF]

J Biol Chem, 2017
Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate and succinylacetone) in blood and tissues, ultimately ...
Li L, Zhang Q, Yang H, Zou Q, Lai C, Jiang F, Zhao P, Luo Z, Yang J, Chen Q, Wang Y, Newsome PN, Frampton J, Maxwell PH, Li W, Chen S, Wang D, Siu TS, Tam S, Tse HF, Qin B, Bao X, Esteban MA, Lai L.   +23 more
europepmc   +6 more sources

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children. [PDF]

Clin Med Insights Pediatr
Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital.
Khan SA, Fakih M, Taufiq N, Ahmerin A, Bangash A, Iqbal Malik M.   +5 more
europepmc   +3 more sources

Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1. [PDF]

Am J Pathol, 2017
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoacetate hydrolase, the last enzyme in the tyrosine catabolic pathway. In this study, we investigated whether fumarylacetoacetate hydrolase deficient (FAH-/-) pigs, a novel large-animal model of HT1, develop fibrosis and cirrhosis characteristic of ...
Elgilani F, Mao SA, Glorioso JM, Yin M, Iankov ID, Singh A, Amiot B, Rinaldo P, Marler RJ, Ehman RL, Grompe M, Lillegard JB, Hickey RD, Nyberg SL.   +13 more
europepmc   +4 more sources

Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1 [PDF]

Cell Transplantation, 2019
Orthotopic liver transplantation remains the only curative therapy for inborn errors of metabolism. Given the tremendous success for primary immunodeficiencies using ex-vivo gene therapy with lentiviral vectors, there is great interest in developing ...
Raymond D. Hickey, Clara T. Nicolas, Kari Allen, Shennen Mao, Faysal Elgilani, Jaime Glorioso, Bruce Amiot, Caitlin VanLith, Rebekah Guthman, Zeji Du, Harvey Chen, Cary O. Harding, Robert A. Kaiser, Scott L. Nyberg, Joseph B. Lillegard   +14 more
doaj   +2 more sources