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Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.

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0 Published in 2017 at "Advances in experimental medicine and biology"

DOI: 10.1007/978-3-319-55780-9_2

Abstract: Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which… read more here.

Keywords: biochemical clinical; hereditary tyrosinemia; tyrosinemia type; disease ... See more keywords

The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.

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1 Published in 2017 at "Advances in experimental medicine and biology"

DOI: 10.1007/978-3-319-55780-9_6

Abstract: HT1 is a severe autosomal recessive disorder due to the deficiency of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. Before the era of treatment with 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), even with newborn screening… read more here.

Keywords: liver tyrosinemia; tyrosinemia type; management; clinical management ... See more keywords

Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.

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0 Published in 2019 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2019.01.019

Abstract: Hereditary tyrosinemia type 1 (HT1), the most severe disease of the tyrosine catabolic pathway, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). More than 90 disease-causing variants have been identified in the fah gene.… read more here.

Keywords: tyrosinemia type; fumarylacetoacetate hydrolase; hereditary tyrosinemia; atypical symptoms ... See more keywords

Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II

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0 Published in 2022 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2022.2034168

Abstract: Tyrosinemia type II (OMIM #276600), also called RichnerHanhart Syndrome (RHS), is a rare autosomal recessive metabolic disease caused by a deficiency of the cytosolic enzyme tyrosine aminotransferase (TAT) (1). It can be detected in neonatal… read more here.

Keywords: tyrosinemia type; manifestation; pseudodendritic keratopathy; bilateral recurrent ... See more keywords

Discontinuation of NTBC after liver transplantation in tyrosinemia type 1

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0 Published in 2018 at "Pediatrics International"

DOI: 10.1111/ped.13697

Abstract: intravenous immunoglobulin unresponsiveness in patients with Kawasaki disease. Circulation 2006; 113: 2606–12. 3 Suzuki Y, Takahashi N, Yada Y, et al. Hemophagocytic lymphohistiocytosis in a newborn infant born to a mother with Sjogren syndrome antibodies.… read more here.

Keywords: transplantation tyrosinemia; tyrosinemia type; liver transplantation; kawasaki disease ... See more keywords

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

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0 Published in 2019 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-019-1259-2

Abstract: BackgroundTreatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related… read more here.

Keywords: tyrosinemia type; tyrosine; phenylalanine; emotional behavioral ... See more keywords

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype

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1 Published in 2023 at "Genes"

DOI: 10.3390/genes14030693

Abstract: Hereditary tyrosinemia type 1 (HT1) is a genetic disorder of the tyrosine degradation pathway (TIMD) with unmet therapeutic needs. HT1 patients are unable to fully break down the amino acid tyrosine due to a deficient… read more here.

Keywords: ntbc therapy; liver disease; hereditary tyrosinemia; tyrosinemia type ... See more keywords

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

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0 Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms22041789

Abstract: 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… read more here.

Keywords: hydrolase; hereditary tyrosinemia; tyrosinemia type; therapeutic targeting ... See more keywords