Treatment of Tyrosinemia

Treatment of Tyrosinemia

Treatment of tyrosinemia is a combination of medical treatment and special low-protein diet therapy. Dietary treatment and medical therapy should be applied together.
While the only treatment option was a liver transplant in the past, it is now possible to treat this condition with medication and diet.
“Nitisinone”, also called NTBC, is used in medical treatment and this drug has led to a substantial change in the prognosis of the disease.
Early treatment has significantly reduced the need for liver transplantation and increased the life span and quality of life of patients.
In addition to medical treatment, a diet program with disease-specific tyrosine and phenylalanine restriction should be adopted.
The basis of diet therapy is diet planning and limiting natural protein intake. Since natural protein intake is restricted in the diet, special amino acid mixtures that do not contain phenylalanine and tyrosine should be used in order to ensure growth and development. These amino acid mixtures should also meet vitamin and mineral requirements.
The daily intake, frequency and usage of amino acid mixtures should be determined by the dietician.
Nutrition has a key role in the treatment of tyrosinemia. Children with tyrosinemia should adopt a natural protein-restricted diet as a lifestyle. Raising awareness of friends and relatives under the supervision of parents and teachers is imperative in ensuring compliance to the diet.
LIVER TRANSPLANT
Liver transplantation for tyrosinemia is reserved as the last choice in most cases. Normalization of growth, normalization of impaired liver functions, prevention of cirrhosis, improvement of renal (kidney) function, prevention of rickets as well as a survival rate above 90% can be expected with treatment.
Early treatment reduces the incidence of liver cancer.
Possible health problems that may occur if left untreated:
Chronic problems progressing to liver injury (cirrhosis and hepatocellular carcinoma), kidney disease (Fanconi syndrome), rickets, growth retardation, and clotting disorder. Recurrent neurological crises may occur as well as mental state changes, abdominal pain, peripheral neuropathy, and/or respiratory failure.