- Official Symbol
- FAH
- Official Full Name
- fumarylacetoacetate hydrolase
- Summary
- This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
- Expression Broad expression in liver (RPKM 62.1), fat (RPKM 60.9) and 20 other tissues See more
- https://www.ncbi.nlm.nih.gov/gene/2184
- Preferred Names
- fumarylacetoacetase
- Names
- FAA
- beta-diketonase
- epididymis secretory sperm binding protein
- fumarylacetoacetate hydrolase (fumarylacetoacetase)
fumarylacetoacetaseThis enzyme catalyzes the final step in the breakdown of tyrosine or phenylalanine to fumarate and acetoacetate. [Energy metabolism, Amino acids and amines]
- Pediatr Transplant. 2019 Jun 3:e13498. doi: 10.1111/petr.13498. [Epub ahead of print]
Abstract
Type 1 tyrosinemia
is a rare metabolic disorder of the tyrosine degradation pathway. Due
to the rarity of the disease, the best evidence literature offers is
limited to guidelines based on expert opinions and optimal treatment is
still a debate. LT serves as a definitive treatment of the defective
metabolic pathway in the liver along with other serious disease
manifestations such as LF and HCC. Nitisinone is a relatively new agent
that is currently recommended for the medical management of the disease.
Its mechanism of action is well understood, and efficacy is well
established when started presymptomatically. This study aims to evaluate
outcomes of 15 patients with type 1 tyrosinemia
who underwent LT in nitisinone era and discuss its effect on prevention
of HCC.
A LT database of 1037 patients was reviewed.
Data from 15 patients with type 1 tyrosinemia were retrospectively analyzed. All the patients except one were treated with nitisinone prior to LT. Most common indications for LT were LF and suspicious nodules. Seven patients had HCC. Mortality rate was 20% (n = 3). Nitisinone treatment has opened new horizons in the management of type 1 tyrosinemia, but LT still remains the only option for the patients developing LF and in the event of HCC. Neonatal screening programs utilizing blood succinyl acetone as the marker should be encouraged especially in the countries, such as Turkey, with high prevalence of consanguineous marriages.
A LT database of 1037 patients was reviewed.
Data from 15 patients with type 1 tyrosinemia were retrospectively analyzed. All the patients except one were treated with nitisinone prior to LT. Most common indications for LT were LF and suspicious nodules. Seven patients had HCC. Mortality rate was 20% (n = 3). Nitisinone treatment has opened new horizons in the management of type 1 tyrosinemia, but LT still remains the only option for the patients developing LF and in the event of HCC. Neonatal screening programs utilizing blood succinyl acetone as the marker should be encouraged especially in the countries, such as Turkey, with high prevalence of consanguineous marriages.
© 2019 Wiley Periodicals, Inc.
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