fumarylacetoacetate


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fum·ar·yl·ac·e·to·ac·e·tate

(fyū'-mă-ril-as'etō-as'e-tāt),
An intermediate in phenylalanine and tyrosine catabolism; elevated in tyrosinemia IA.
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References in periodicals archive ?
Fumarylacetoacetate hydrolase gene mutation testing was performed to rule out tyrosinaemia type I and yielded a normal result.
Haemophagocytic lymphohistiocytosis in a preterm infant: A case report
This patient has tyrosinemia type I (TYR1) caused by deficiency of fumarylacetoacetate hydrolase [EC.
Deranged Liver Function in a Neonate
The accumulation of the toxic metabolites succinylacetone and fumarylacetoacetate in the liver and kidneys leads to death if not treated.
Altered wheel running and exploratory activity in a mouse model of Tyrosinemia Type I
Fumarylacetoacetate hydrolase (FAH) deficiency or tyrosinemia type 1 (TT1) is an inherited metabolic disease that can cause neurologic crisis and respiratory distress.
Tyrosinemia type 1: an overview of nursing care
It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
Hepatorenal tyrosinemia
The toxicological significance of inhibition of MAAI is highlighted by the consequences of loss of function mutations in fumarylacetoacetate (FAA) hydrolase, the terminal enzyme of phenylalanine and tyrosine catabolism.
The dichloroacetate dilemma: environmental hazard versus therapeutic goldmine--both or neither?
Fernandez-Canon and Penalva (1998) have reported the Zeta GSTs in Aspergillus nidulans and humans are identical to an enzyme maleylacetoacetate isomerase (MAAI), which catalyzes the glutathione-dependent cis--trans isomerization of maleylacetoacetate to fumarylacetoacetate in the catabolic pathway of tyrosine/phenylalanine.
A tale of plant Glutathione S-transferases: since 1970
Tyrosinemia is a genetic inborn error of metabolism, involving the amino acid tyrosine and is associated with a lack of the enzyme Fumarylacetoacetate Hydrolase (FAH).
Dietary therapies for medical disorders: finding a way to make them work. (Diet & Nutrition)(Cover Story)
A single cell had apparently reverted to producing the missing enzyme, fumarylacetoacetate hydrolase (FAH), and then vigorously proliferated to generate each nodule.
Regrowing livers with gene therapy
The enzyme is fumarylacetoacetate hydrolase (FAH) which is markedly reduced in affected patients.
Tyrosinemia
Blas Cerda, director of Clinical Tandem Mass Spectrometry R&D at PerkinElmer, and co-developer of the NeoBase Kit, noted, "Tyrosinemia Type I is caused by a deficiency in the enzyme fumarylacetoacetate hydrolase, and its incidence is estimated at approximately one in 100,000 to 120,000 newborns.
PerkinElmer and the Meyer Children's Hospital of Florence Co-Develop Early Diagnostic for Lethal Genetic Metabolic Disease Affecting Newborns
Hereditary tyrosinaemia type I (HT-I) (OMIM 276700) is a rare autosomal recessive disease caused by deficiency of fumarylacetoacetate hydrolase (FAH), which is the last enzyme in tyrosine catabolic pathway.
Hereditary tyrosinaemia type I presenting as multiple focal hepatic lesions

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