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Relevant bibliographies by topics / Fumaryl acetoacetate hydrolase

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Academic literature on the topic 'Fumaryl acetoacetate hydrolase'

Author: Grafiati

Published: 4 June 2025

Last updated: 1 August 2025

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Journal articles on the topic "Fumaryl acetoacetate hydrolase"

1

Gil-Martínez, Jon, Iratxe Macias, Luca Unione, et al. "Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I." International Journal of Molecular Sciences 22, no. 4 (2021): 1789. http://dx.doi.org/10.3390/ijms22041789.

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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 as succinylacetone, maleylacetoacetate, and fumarylacetoacetate in the liver and kidney, among other tissues. The disease is severe and, when untreated, it can lead to death. A low tyrosine diet combined with the herbicidal nitisinone constitutes the only available therapy, but this treatment is not devoid of secondary effects and long-term co

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2

Islam, Fahmida, Wahiduzzaman Mazumder, ASM Bazlul Karim, et al. "Tyrosinemia Type 1 – A case report." Bangladesh Journal of Child Health 43, no. 3 (2020): 174–76. http://dx.doi.org/10.3329/bjch.v43i3.49577.

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Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumaryl acetoacetate hydrolase. It has an autosomal recessive pattern of inheritance. It often presents with liver disease or liver failure with predominant bleeding tendencies, Fanconi syndrome and or rickets with neurological crisis. Diagnosis is based on clinical features, increased tyrosine and methionine in plasma and the presence of succinylacetone in urine. Untreated patient develops liver failure, cirrhosis and hepatocellular carcinoma and end stage of renal failure. Here we describe a 9 mo

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3

Manabe, S., S. Sassa, and A. Kappas. "Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts." Journal of Experimental Medicine 162, no. 3 (1985): 1060–74. http://dx.doi.org/10.1084/jem.162.3.1060.

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Succinylacetone (SA) (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a consequence of an inherited deficiency of fumaryl acetoacetate hydrolase activity. Patients with this disease are associated with a number of abnormalities, including aminoaciduria, proteinuria, liver failure, commonly hepatoma, and decreased GSH concentration in the liver. In the course of our studies of tyrosinemia, we found that the urine of patients with this disorder contains material(s) that absorbs light at 315 nm. We investigated the nature of the 315 nm materi

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4

gil-martinez, j., I. macias, L. Unione, et al. "Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I." February 1, 2021. https://doi.org/10.3390/ijms22041789.

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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 metabolites such as succinylacetone, maleylacetoacetate, and fumarylacetoacetate in the liver and kidney, among other tissues. The disease is severe and, when untreated, it can lead to death. A low tyrosine diet combined with the herbicidal nitisinone constitutes the only available therapy, but this treatment is not devoid of secondary effects and long-term co

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5

Di Silvestre, Dario, Gianpiero Vigani, Pierluigi Mauri, Sereen Hammadi, Piero Morandini, and Irene Murgia. "Network Topological Analysis for the Identification of Novel Hubs in Plant Nutrition." Frontiers in Plant Science 12 (February 10, 2021). http://dx.doi.org/10.3389/fpls.2021.629013.

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Network analysis is a systems biology-oriented approach based on graph theory that has been recently adopted in various fields of life sciences. Starting from mitochondrial proteomes purified from roots of Cucumis sativus plants grown under single or combined iron (Fe) and molybdenum (Mo) starvation, we reconstructed and analyzed at the topological level the protein–protein interaction (PPI) and co-expression networks. Besides formate dehydrogenase (FDH), already known to be involved in Fe and Mo nutrition, other potential mitochondrial hubs of Fe and Mo homeostasis could be identified, such a

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6

Kehar, Mohit, Moinak Sen Sarma, Jayendra Seetharaman, Carolina Jimenez Rivera, and Pranesh Chakraborty. "Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation." Canadian Liver Journal, January 31, 2024. http://dx.doi.org/10.3138/canlivj-2023-0018.

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Hepatorenal tyrosinemia type 1 (HT-1) is a rare autosomal recessive disease that results from a deficiency of fumaryl acetoacetate hydrolase (FAH), a critical enzyme in the catabolic pathway for tyrosine. This leads to the accumulation of toxic metabolites such as fumaryl and maleylacetoacetate, which can damage the liver, kidneys, and nervous system. The discovery of 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC or nitisinone) has significantly improved the management of HT-1, particularly when initiated before the onset of symptoms. Therefore, newborn screening for HT-1 is

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