Tyrosinemia

Tyrosinemia is a hereditary genetic inborn error of the metabolism that causes severe liver disease in infancy.

Symptoms of Tyrosinemia

1. Poor appetite and failure to grow normally
2. Vomiting
3. Diarrhea, bloody stools
4. Jaundice
5. Swollen liver
6. Cirrhosis of the liver
7. Intense abdominal pain
8. Heart muscle weakness
9. Lethargy

Causes of Tyrosinemia

Failure to break down tyrosine leads to abnormal accumulation of tyrosine in the body which acts like a poison causing damage, especially in the liver.

Diagnosis of Tyrosinemia

Child screening for tyrosinemia type I is performed using tandem mass spectrometry. Diagnosis may be confirmed through the detection of succinylacetone in the urine or decreased activity of the FAH enzyme in liver tissue or cultured fibroblasts.

Treatment of Tyrosinemia

Treatment of Tyrosinemia can be done in three ways.
1. Diet - Low protein diet that contains limited amounts of phenylalanine and tyrosine should be taken.

2. Meditation - Nitisinone reduces the toxic effects of tyrosine in the body. The medication, when used along with the dietary restrictions, has been successful in reducing the symptoms of tyrosinemia

3. Liver Transplant – In case of liver failure liver transplantation may be required.