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Tyrosinemia



Tyrosinemia 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.


Tyrosinemia 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.


Tyrosinemia Diagnosis


There are no specific diagnostic procedures indicated for the disease.


Tyrosinemia 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).


Tyrosinemia 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.


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