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Is there a cure for tyrosinemia type 1?
These cases highlight TT1 as a treatable cause of cardiomyopathy in children. It also supports the idea that early diagnosis and treatment may prevent the development of cardiomyopathy associated with tyrosinemia.
When to seek medical attention for tyrosinemia type I?
Tyrosinemia type I, a disorder of tyrosine metabolism, is typically detected on newborn screening. When untreated, tyrosinemia type I classically presents as severe liver disease in young infants. Children older than age six months may come to medical attention with signs of renal disease, rickets, and/or neurologic crises.
Is there such a thing as tyrosinemia type 3?
Tyrosinemia type III is very rare; only a few cases have been reported. Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively.
How many people in the world have tyrosinemia?
In the Saguenay-Lac St. Jean region of Quebec, tyrosinemia type I affects 1 in 1,846 people. Tyrosinemia type II occurs in fewer than 1 in 250,000 individuals worldwide. Tyrosinemia type III is very rare; only a few cases have been reported.
Last Update: Oct 2021
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This makes it essential that the practicing paediatrician be familiar with the clinical presentation of these disorders.
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