Tyrosinemia Type I: Causes, Symptoms, and Effective Management -NOTACares

Thu, 03 Apr 2025 12:36:27 +0000

Tyrosinemia Type I is a rare genetic metabolic disorder caused by a deficiency of the fumarylacetoacetate hydrolase (FAH) enzyme, leading to the toxic buildup of tyrosine in the body. This condition primarily affects the liver and kidneys, potentially causing severe complications such as liver failure and neurological crises if untreated. Early newborn screening and timely intervention with NTBC medication and a strict low-protein diet are crucial for managing symptoms and preventing complications. Specialized dietary plans help minimize tyrosine and phenylalanine intake, reducing toxic metabolite accumulation. With proper medical care and nutritional support, individuals with Tyrosinemia Type I can lead healthier lives. Learn more about treatment options and dietary plans at NOTACares.org and take control of your health today.