Tyrosinemia

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.

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