Results 161 to 170 of about 1,520,545 (236)

A rare case report of tyrosinemia type I

South Asian Journal of Health Sciences, 2023
Tyrosinemia type I is a rare genetic disorder that occurs due to the deficiency of enzyme Fumarylacetoacetate hydrolase, resulting in elevated levels of tyrosine in the bloodstream. This case study focuses on a 4-year-old boy with a previous medical history of tyrosinemia type I, who has been admitted to the hospital multiple times due to this ...
Aparna Matpathi
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Laboratory monitoring of patients with hereditary tyrosinemia type I

Molecular Genetics and Metabolism, 2020
The prognosis of patients with Hereditary Tyrosinemia Type 1 (HT-1) has greatly improved with early detection through newborn screening and the introduction of nitisinone (NTBC) therapy. A recent guideline calls for periodic monitoring of biochemical markers and NTBC levels to tailor treatment; however, this is currently only achieved through a ...
Matthew J, Schultz, Brian C, Netzel, Rani H, Singh, Gisele B, Pino, Dimitar K, Gavrilov, Devin, Oglesbee, Kimiyo M, Raymond, Piero, Rinaldo, Silvia, Tortorelli, Wendy E, Smith, Dietrich, Matern   +10 more
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Living‐donor liver transplantation for children with tyrosinemia type I

Journal of Digestive Diseases, 2020
ObjectiveTo evaluate the efficacy of living‐donor liver transplantation (LDLT) in children with tyrosinemia type I.MethodsAltogether 10 patients diagnosed with tyrosinemia type I underwent LDLT between June 2013 and April 2019. Cirrhosis was the indication for LDLT in all 10 patients, and hepatocellular carcinoma (HCC) was suspected in nine.
Yuan Liu, Yi Luo, Lei Xia, Bi Jun Qiu, Tao Zhou, Ming Xuan Feng, Feng Xue, Xiao Song Chen, Lian Shu Han, Jian Jun Zhang, Qiang Xia   +10 more
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Use of hematin in tyrosinemia type I

Molecular Genetics and Metabolism
Monika Williams, Clara Hildebrandt
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CHRONIC-ONSET HEREDITARY TYROSINEMIA TYPE I

Pediatric Pathology & Molecular Medicine, 2001
A 6-month-old male infant presented to the pediatric gastroenterology elinic for maternal concerns of abdominal distention since birth. The abdom­ inal distention was not associated with vomiting or diarrhea and had not improved despite multiple formula changes. Past medical history was signifi­ cant for ,B-thalassemia.
John Pohl, Catherine Hughes, Michael Farrell   +2 more
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Dendrimer‐Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I

Advances in Materials, 2018
mRNA‐mediated protein replacement represents a promising concept for the treatment of liver disorders. Children born with fumarylacetoacetate hydrolase (FAH) mutations suffer from Hepatorenal Tyrosinemia Type 1 (HT‐1) resulting in renal dysfunction ...
Qiang Cheng, Tuo Wei, Yuemeng Jia, L. Farbiak, Kejin Zhou, Shuyuan Zhang, Yonglong Wei, Hao Zhu, D. Siegwart   +8 more
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Maternal and fetal tyrosinemia type I

Journal of Inherited Metabolic Disease, 2010
AbstractA 22 year‐old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day).
N, Garcia Segarra, S, Roche, A, Imbard, J F, Benoist, M O, Grenèche, A, Davit-Spraul, H, Ogier de Baulny   +6 more
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Chromosomal Instability in Hereditary Tyrosinemia Type I

Pediatric Pathology, 1990
Autopsy of a 4-year-old girl with hereditary tyrosinemia type I revealed a hepatocellular carcinoma in addition to cirrhosis and renal tubular dysplasia. Cytogenetic studies performed on a skin fibroblast culture demonstrated greatly increased chromosome breakage, which affected 71% of the cells. This suggests that the development of hepatoma, which is
E, Gilbert-Barness, L A, Barness, L F, Meisner   +2 more
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Diagnosis and management of tyrosinemia type I

The Journal of Pediatrics, 1995
Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (EC 3.7.1.2), which is the last enzyme in the tyrosine degradation pathway. The enzyme block causes accumulation of toxic metabolites in the liver and kidneys, which are the organs where tyrosine is mainly degraded.
E, Holme, S, Lindstedt
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