fumarylacetoacetase activity

Known as: 4-fumarylacetoacetate fumarylhydrolase activity, beta-diketonase activity, fumarylacetoacetate hydrolase activity 
Catalysis of the reaction: 4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate + H(+). [EC:3.7.1.2, RHEA:10247]

Topic mentions per year

Topic mentions per year

1981-2001
01219812001

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2001
2001
Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity. Treatment with… (More)
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1994
1994
In six unrelated patients with hereditary tyrosinemia type 1 (HT1), three different disease-causing mutations were found by DNA… (More)
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1993
1993
Two Norwegian patients with chronic tyrosinemia type I showed > 50% residual fumarylacetoacetase activity in liver samples… (More)
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1990
1990
Three patients with hereditary tyrosinemia type 1, two brothers and one girl, studied at the age of 5, 12 and 15 years… (More)
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1986
1986
Fumarylacetoacetase has been determined in fibroblasts, lymphocytes and/or liver tissue from 46 patients affected or presumed to… (More)
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1985
1985
Two healthy adults with low fumarylacetoacetase activity in fibroblasts and lymphocytes, one a compound heterozygote for the… (More)
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1985
1985
Succinylacetone (SA) (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a… (More)
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1984
1984
ABSTRACT: Metabolic and enzymatic studies in a patient with hereditary tyrosinemia demonstrated for the first time a deficiency… (More)
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1981
1981
A patient is described with type I tyrosinemia characterized by urinary excretion of succinylacetone together with increased… (More)
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1981
1981
Extensive metabolic and enzymatic studies in a patient with hereditary hepatorenal tyrosinemia demonstrated for the first time a… (More)
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