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.
References in periodicals archive ?
Hereditary tyrosinemia Type I (HTI, OMIM 276700) is a rare inborn error of tyrosine metabolism due to deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine catabolic pathway (1) (Figure 1).
Fumarylacetoacetate hydrolase gene mutation testing was performed to rule out tyrosinaemia type I and yielded a normal result.
Delivery of CRISPR/Cas9 components through the hydrodynamic injection or adeno-associated virus-9 have been applied to correct mutation of fumarylacetoacetate hydrolase (FAH) or dystrophin gene (dmd) in mouse models of hereditary tyrosinemia type I (HTI) or Duchenne muscular dystrophy through homologous recombination or exon skipping therapy [126-128].
Type 1 hereditary tyrosinaemia is caused by a deficiency of fumarylacetoacetate hydrolase, the enzyme responsible for the hydrolysis of fumarylacetoacetase.
Social behavior and cognitive deficits have recently been observed in individuals with the rare disorder tyrosinemia type I, which is caused by an autosomal recessive fumarylacetoacetate hydrolase (FAH) deficiency.
Initially, it was shown that in a FAH-/- (fumarylacetoacetate hydrolase-deficient) mouse model only (c-[Kit.sup.high][Thy.sup.low]Lin-Sca1+)-HSC, but not c-Kit-Sca1- or lineage-positive (Lin+) cells, differentiated into hepatocyte-like cells [86].
This patient has tyrosinemia type I (TYR1) caused by deficiency of fumarylacetoacetate hydrolase [EC.3.7.1.2], which catalyzes the hydrolysis of fumarylacetoacetate at the final step of tyrosine metabolism.
Fumarylacetoacetate hydrolase (FAH) deficiency or tyrosinemia type 1 (TT1) is an inherited metabolic disease that can cause neurologic crisis and respiratory distress.
Nash, "The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia," The Journal of Biological Chemistry, vol.
It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
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.
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.