Results 1 to 10 of about 1,520,507 (200)

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I [PDF]

Balkan Medical Journal, 2016
Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase.
Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Neslihan Önenli Mungan, Fatih Kardaş   +4 more
doaj   +8 more sources

Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I [PDF]

Molecular Therapy: Methods & Clinical Development, 2021
Hereditary tyrosinemia type I (HT1) results from the loss of fumarylacetoacetate hydrolase (FAH) activity and can lead to lethal liver injury (LLI). Therapeutic options for HT1 remain limited.
Peng Gu, Qin Yang, Bangzhu Chen, Ya-nan Bie, Wen Liu, Yuguang Tian, Hongquan Luo, Tao Xu, Chunjin Liang, Xing Ye, Yan Liu, Xiangwu Tang, Weiwang Gu   +12 more
doaj   +3 more sources

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening [PDF]

International Journal of Neonatal Screening, 2020
Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal
Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas   +8 more
doaj   +3 more sources

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I. [PDF]

Nutrients, 2021
Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein source to traditional amino acids (L-AA).
Daly A, Evans S, Pinto A, Ashmore C, MacDonald A.   +4 more
europepmc   +5 more sources

Tyrosinemia type I: an unusual case presentation

Journal of Biochemical and Clinical Genetics, 2022
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj   +3 more sources

CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I. [PDF]

Mol Ther, 2021
Patients with hereditary tyrosinemia type I (HT1) present acute and irreversible liver and kidney damages during infancy. CRISPR/Cas9-mediated gene correction during infancy may provide a promising approach to treat patients with HT1.
Li N, Gou S, Wang J, Zhang Q, Huang X, Xie J, Li L, Jin Q, Ouyang Z, Chen F, Ge W, Shi H, Liang Y, Zhuang Z, Zhao X, Lian M, Ye Y, Quan L, Wu H, Lai L, Wang K.   +20 more
europepmc   +2 more sources

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. [PDF]

Int J Mol Sci, 2021
Fumarylacetoacetate hydrolase (FAH) is the fifth enzyme in the tyrosine catabolism pathway. A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic metabolites such
Gil-Martínez J, Macias I, Unione L, Bernardo-Seisdedos G, Lopitz-Otsoa F, Fernandez-Ramos D, Lain A, Sanz-Parra A, Mato JM, Millet O.   +9 more
europepmc   +2 more sources

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I. [PDF]

Int J Mol Sci, 2020
The elucidation of aberrant splicing mechanisms, frequently associated with disease has led to the development of RNA therapeutics based on the U1snRNA, which is involved in 5′ splice site (5′ss) recognition.
Balestra D, Scalet D, Ferrarese M, Lombardi S, Ziliotto N, C Croes C, Petersen N, Bosma P, Riccardi F, Pagani F, Pinotti M, van de Graaf SFJ.   +11 more
europepmc   +2 more sources

Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2021
Hereditary tyrosinemia type Ⅰ (HT-1) is a severe autosomal recessive inherited metabolic disease. Due to the deficiency of fumarylacetoacetase hydrolase (FAH), the toxic metabolites are accumulated in the body, resulting in severe liver dysfunction ...
Tang Y, Kong Y.
europepmc   +2 more sources

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. [PDF]

Genet Med, 2017
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR.   +10 more
europepmc   +2 more sources