Tyrosinemia type I definition

Tyrosinemia type I means a congenital disorder characterized by an accumulation of the amino acid tyrosine due to defective fumarylacetoacetate hydrolase activity.
Sample 1Sample 2Sample 3
Tyrosinemia type I means a congenital disorder charac- terized by an accumulation of the amino acid tyrosine due to defective fumarylacetoacetate hydrolase activity.
Sample 1Sample 2

Examples of Tyrosinemia type I in a sentence

  • Tyrosinemia type I mice display hy- permyelination of the cerebral cortex as well as be- havioral and cognitive impairments in testing com- pared to WT-NTBC and WT-water mice.

  • Succinylacetone is a vital marker of Tyrosinemia type I, which makes the identification of this compound substantial.

  • In terms of annual costs per patient, stands out the decrease in Nitisinone (Tyrosinemia type I) (- 464 MM per patient).

  • In humans mutations in the HPD gene can cause two distinct genetic diseases, Hereditary Tyrosinemia type III (HT III) and Hawkinsinuria, and HPD activity is markedly reduced in the liver of patients with Hereditary Tyrosinemia type I (HT I) [7].

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