Tyrosinemia

Below you will find more information about Tyrosinemia from Medigest. If you believe that you are suffering from any of the symptoms of Tyrosinemia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Tyrosinemia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Tyrosinemia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine. Tyrosine is a building block of most proteins. There are three types of tyrosinemia namely Type I, Type II, and Type III.

Diagnosis

There are no specific diagnostic procedures indicated for the disease.

Treatment

Treatment for the different types of tyrosinemia varies. It is typical though for patients to undergo a low protein diet. Recent experience with NTBC has been found to be very effective. A full or partial live transplant is said to be the most effective treatment for tyrosinemia patients.

Symptoms and Signs

Type I symptoms usually manifest 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), cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). This type of tyrosinemia can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. Symptoms of Type II tyrosinemia often begin in early childhood. Among the symptoms are excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. Mental retardation is a characteristic of about 50% of individuals with Type II tyrosinemia. Type III meanwhile has features that include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia).

Causes

The most severe form of the dirorder, Type I tyrosinemia is caused by a shortage of the enzyme fumarylacetoacetate hydrolase. A deficiency of the enzyme tyrosine aminotransferase on the hand causes Type II and can affect the eyes, skin, and mental development. Type III tyrosinemia meanwhile, is also a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase.

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