Hereditary tyrosinemia type 1 in an infant with multiple congenital defects
Лечащий Врач, 2023 Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
H. A. Sarkisyan +10 more
doaj +3 more sources
Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children [PDF]
Clinical Medicine Insights PediatricsBackground: 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.
Sabeen Abid Khan +2 more
exaly +6 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 +14 more
doaj +4 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 +4 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 +13 more
europepmc +5 more sources
Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review [PDF]
Frontiers in Pediatrics, 2021 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.
Karim N. Daou +5 more
doaj +2 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 +15 more
doaj +2 more sources
Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1 [PDF]
Human Gene Therapy, 2018 Caitlin J Vanlith +2 more
exaly +4 more sources
Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature [PDF]
Journal of Gastrointestinal and Abdominal Radiology, 2020 Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown.
Somesh Singh +3 more
doaj +2 more sources
Molecular Therapy - Methods and Clinical Development, 2022 Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L Cacicedo, Beate K Straub
exaly +3 more sources