Summarized by Plex Health
Last Updated: 10 May 2022
a novel mutation causing mild, atypical fumarylacetoacetase deficiency (tyrosinemia type i): a case report. "a novel mutation causing mild, atypical fumarylacetoacetase deficiency (tyrosinemia type i): a case report.", by Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J. F3: The Ala35Thr mutation can be confirmed by restriction analysis. Lanes 1 and 5: control. Lanes 2 and 6: the patient's mother. Lanes 3 and 7: the patient's father. Lanes 4 and 8: the patient....

Tyrosinemia is a hereditary disorder characterized by interruptions in the multistep procedure that damages down the amino acid tyrosine, a structure block of most proteins. There are three types of tyrosinemia, which are each identified by their symptoms and hereditary cause. Affected infants fail to gain weight and grow at the anticipated rate as a result of inadequate food resistance due to the fact that high-protein foods lead to looseness of the bowels and vomiting. Affected babies might have yellowing of the skin and whites of the eyes, a cabbage-like odor, and an increased tendency to bleed. Tyrosinemia type I can lead to liver and kidney failure, compromising and softening of the bones, and an increased risk of liver cancer. Untreated, children with tyrosinemia type I usually do not make it through past the age of 10. Tyrosinemia type II can affect the eyes, skin, and mental development. About 50 percent of people with tyrosinemia type II have some degree of intellectual disability. Tyrosinemia type III is the rarest of the three types.

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

** If you believe that content on the Plex is summarised improperly, please, contact us, and we will get rid of it quickly; please, send an email with a brief explanation.

*** If you want us to remove all links leading to your domain from Plex.page and never use your website as a source of the "Online Knowledge", please contact us using a corporate email and we will remove everything in 10 business days.


Plex Page is a Biology & Health Sciences "Online Knowledge Base," where a machine summarizes all the summaries.