Tyrosinemia Type I

Symptoms of Tyrosinemia Type I can start at different ages, but symptoms are typically present within the first year of life. There are two forms: acute and chronic. The acute form is characterized by symptoms that present within the first 6 months of life. The chronic form is characterized by a more gradual onset of symptoms that occur after 6 months of age.

When people with Tyrosinemia Type I are not treated, they will develop liver dysfunction and renal tubular (kidney) dysfunction. These health problems lead to growth failure and rickets. People who are on treatment, particularly those who take nitisinone, may develop corneal crystals. Corneal crystals are a buildup of tyrosine in the eye causing the eye to be sensitive to light and itchy.

For any infant presenting with hypertyrosinemia (high levels of tyrosine), hypermethioninemia (high levels of methionine), liver disease, renal syndrome, rickets, or neurologic crises (including altered mental status, abdominal pain, respiratory failure, and pain/numbness in the hands and feet), they should be evaluated for Tyrosinemia Type I. There are differential diagnoses for each of these symptoms that should be considered if Tyrosinemia Type I is ruled out.

Unusual symptoms or clinical features of Tyrosinemia Type I include:

• Liver disease
• Kidney disease
• Neurologic crisis (abdominal pain, altered mental status, numbness or pain in the hands and feet)

Every person with Tyrosinemia Type I will have increased tyrosine and succinylacetone levels. Because of this, every person with Tyrosinemia Type I can expect to have liver disease, kidney disease, and neurologic crises (severe pain and an altered mental status) if left untreated. People who have significant liver damage may develop liver cancer.