Tyrosinemia Type I: Causes, Symptoms & Treatment

Fri, 17 Oct 2025 09:15:38 +0000

Tyrosinemia Type I is a rare but serious inherited disorder in which the body cannot properly break down the amino acid tyrosine due to a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). This leads to the accumulation of toxic byproducts—especially succinylacetone—that damage the liver and kidneys.Infants may show early symptoms such as jaundice, failure to thrive, and a cabbage-like odor. Without treatment, it can cause severe liver failure and increase the risk of liver cancer. Diagnosis relies on detecting elevated tyrosine and succinylacetone levels, while treatment includes nitisinone therapy, a low-tyrosine/low-phenylalanine diet, and in severe cases, liver transplantation.