Normalization of the tyrosine level is hastened by dietary supplementation with vitamin C. Patients with Type I disease must be treated aggressively with dietary restriction of tyrosine and phenylalanine, and administration of 2(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC). This drug inhibits 4HPPD and lowers tyrosine metabolites that are responsible for much of the Type I morbidity. Liver transplantation is a cure for patients with Type I disease, providing normal FAH activity.
Because the diagnosis and therapy of tyrosinemia is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist. It is recommended that parents travel with a letter of treatment guidelines from the patient’s physician.