Caring for a Child With Tyrosinemia: Guidance and Hope

Fri, 24 Oct 2025 08:05:30 +0000

Tyrosinemia Type I is an inherited condition in which the body cannot fully break down the amino acid tyrosine because of a missing or faulty enzyme (fumarylacetoacetate hydrolase, FAH). That enzyme block causes a path-specific toxic chemical — succinylacetone — to build up and damage the liver and kidneys; babies often show early signs such as jaundice, poor growth, or unusual bleeding, and doctors can confirm the condition by finding succinylacetone on newborn screening or follow-up tests. Today, early treatment with the medicine nitisinone plus a low-tyrosine/low-phenylalanine diet can prevent much of the damage and dramatically improve outcomes, while liver transplant is reserved for severe progressive disease.