Tyrosinemia Type I

Symptoms

What are the main symptoms of Tyrosinemia Type I?

The main symptoms of Tyrosinemia Type I include:

  • Liver disease
  • Kidney disease
  • Neurologic crisis
  • Liver cancer

Infants with the acute form of Tyrosinemia Type 1 have the following symptoms:

  1. Failure to gain weight and grow at the expected rate (failure to thrive)
  2. Diarrhea
  3. Bloody stools (melena)
  4. Vomiting
  5. Fever

They may also exhibit an abnormally enlarged liver (hepatomegaly), jaundice, lethargy, a tendency to bruise easily, and/or irritability. Some affected infants may develop a distinctive, cabbage-like odor.

References
  • http://rarediseases.org/rare-diseases/tyrosinemia-type-1/
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Are there earlier onset, later onset, or variant forms of Tyrosinemia Type I?

What health problems should I look for in Tyrosinemia Type I?

Any other diseases that look a lot like Tyrosinemia Type I

Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Tyrosinemia Type I?

Is there variable expression or incomplete penetrance in Tyrosinemia Type I?

Are there earlier onset, later onset, or variant forms of 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.

References
  • https://rarediseases.org/rare-diseases/tyrosinemia-type-1/
What health problems should I look for in Tyrosinemia Type I?

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.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Any other diseases that look a lot like Tyrosinemia Type I

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.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Tyrosinemia Type I?

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)
References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Is there variable expression or incomplete penetrance in Tyrosinemia Type I?

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.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/

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