Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. Tyrosinemia is inherited in an autosomal recessive pattern. There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.

Types

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Type I tyrosinemia

Type I tyrosinemia () is the most severe form of this disorder and is caused by a shortage of the enzyme fumarylacetoacetate hydrolase (), encoded by the gene FAH. Fumarylacetoacetate hydrolase is the last in a series of five enzymes needed to break down tyrosine. Symptoms of type I tyrosinemia usually appear in the first few months of life and include failure to gain weight and grow at the expected rate (failure to thrive), diarrhea, vomiting, yellowing of the skin and whites of the eyes (jaundice), cabbagelike odor, and increased tendency to bleed (particularly nosebleeds). Type I tyrosinemia can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer.

Worldwide, type I tyrosinemia affects about 1 person in 100,000. This type of tyrosinemia is much more common in Quebec, Canada. The overall incidence in Quebec is about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of Quebec, type 1 tyrosinemia affects 1 person in 1,846.

More on [ Tyrosinemia ]

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