Tyrosinemia Type II

Symptoms

What are the main symptoms of Tyrosinemia Type II?

The main symptoms of Tyrosinemia Type II include:

  • Thick, painful skin on the hands and feet
  • Eyes are sensitive to light, painful, and red with excessive tearing
  • Intellectual disability
References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
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Are there earlier onset, later onset, or variant forms of Tyrosinemia Type II?

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

Any other diseases that look a lot like Tyrosinemia Type II?

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

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

If this is a predisposition gene, what are the chances I will get Tyrosinemia Type II?

Are there earlier onset, later onset, or variant forms of Tyrosinemia Type II?

There are not different forms of Tyrosinemia Type II. Onset of symptoms is usually within the first year of life.

References
  • https://rarediseases.info.nih.gov/gard/3105/tyrosinemia-type-2/resources/1
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
What health problems should I look for in Tyrosinemia Type II?

People who are not treated develop thick, painful patches of skin on the hands and feet. Their eyes can also become red, painful, and sensitive to light. Some people with Tyrosinemia Type II will have an intellectual disability. People with Tyrosinemia Type II may also experience behavior changes and poor coordination.

References
  • https://rarediseases.info.nih.gov/gard/3105/tyrosinemia-type-2/resources/1
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
Any other diseases that look a lot like Tyrosinemia Type II?

Other diseases that look a lot like Tyrosinemia Type II include:

  • Photophobia- sensitivity to light
  • Palmoplantar Hyperkeratosis- thickening of the skin on the hands and feet

These two symptoms are both key features of Tyrosinemia Type I. However, they do exist outside of Tyrosinemia.

References
  • https://rarediseases.info.nih.gov/gard/3105/tyrosinemia-type-2/resources/1
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Tyrosinemia Type II?

Symptoms or clinical features of Tyrosinemia Type II include:

  • Eyes which are red, sensitive to light, and painful
  • Painful, thickening of the skin on the hands and feet
References
  • https://rarediseases.info.nih.gov/gard/3105/tyrosinemia-type-2/resources/1
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
Is there variable expression or incomplete penetrance in Tyrosinemia Type II?

All people with Tyrosinemia Type II who have changes in the TAT gene will have symptoms of the disorder if left untreated. Symptoms will vary from person to person depending on how much protein is in their diet. Not every person with Tyrosinemia Type II will have an intellectual disability.

References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Turk J Pediatr. 2011 Nov-Dec;53(6):692-4.Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.Iskeleli G1, Bilgeç MD, Arici C, Atalay E, O?reden T, Aydin A
If this is a predisposition gene, what are the chances I will get Tyrosinemia Type II?

TAT is not a predisposition gene.

References
  • Turk J Pediatr. 2011 Nov-Dec;53(6):692-4.Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.Iskeleli G1, Bilgeç MD, Arici C, Atalay E, O?reden T, Aydin A
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii

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