14

How do I know if I have Tyrosinemia type II?

What signs or symptoms may make you suspect you may have Tyrosinemia type II. People who have experience in Tyrosinemia type II offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Tyrosinemia type II?

Tyrosinemia type II, also known as oculocutaneous tyrosinemia or Richner-Hanhart syndrome, is a rare genetic disorder that affects the body's ability to break down the amino acid tyrosine. This condition is caused by a deficiency of the enzyme tyrosine aminotransferase (TAT), which is responsible for converting tyrosine into other compounds that the body needs.



Symptoms:


Individuals with Tyrosinemia type II may experience a range of symptoms, which can vary in severity. Some common signs and symptoms include:



  • Eye problems: Eye symptoms are often the first noticeable signs of Tyrosinemia type II. These may include redness, tearing, sensitivity to light (photophobia), and painful eye ulcers.

  • Skin abnormalities: Skin manifestations can include painful, blistering skin lesions, particularly on the palms of the hands and soles of the feet. These lesions may be aggravated by sun exposure.

  • Developmental delays: Some individuals may experience delays in reaching developmental milestones, such as sitting, crawling, or walking.

  • Intellectual disability: In severe cases, intellectual disability may be present, although it is not a universal feature of the condition.



Diagnosis:


If you suspect you or your child may have Tyrosinemia type II, it is important to consult with a healthcare professional. The diagnosis of this condition involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Blood and urine tests can help measure the levels of tyrosine and its byproducts, which are typically elevated in individuals with Tyrosinemia type II.



Treatment:


Currently, there is no cure for Tyrosinemia type II. However, management of the condition focuses on reducing symptoms and preventing complications. This may involve a low-protein diet, which restricts the intake of tyrosine and other amino acids. Additionally, regular eye examinations and protective measures against sun exposure are recommended to manage eye and skin symptoms.



If you suspect Tyrosinemia type II, it is crucial to seek medical advice for an accurate diagnosis and appropriate management. Only a healthcare professional can provide a definitive diagnosis and guide you through the necessary steps for treatment and support.


Diseasemaps
1 answer

Do I have Tyrosinemia type II?

Tyrosinemia type II life expectancy

What is the life expectancy of someone with Tyrosinemia type II?

2 answers
Celebrities with Tyrosinemia type II

Celebrities with Tyrosinemia type II

1 answer
Is Tyrosinemia type II hereditary?

Is Tyrosinemia type II hereditary?

2 answers
Is Tyrosinemia type II contagious?

Is Tyrosinemia type II contagious?

2 answers
Natural treatment of Tyrosinemia type II

Is there any natural treatment for Tyrosinemia type II?

ICD9 and ICD10 codes of Tyrosinemia type II

ICD10 code of Tyrosinemia type II and ICD9 code

1 answer
Living with Tyrosinemia type II

Living with Tyrosinemia type II. How to live with Tyrosinemia type II?

1 answer
Tyrosinemia type II diet

Tyrosinemia type II diet. Is there a diet which improves the quality of lif...

1 answer

World map of Tyrosinemia type II

Find people with Tyrosinemia type II through the map. Connect with them and share experiences. Join the Tyrosinemia type II community.

Stories of Tyrosinemia type II

TYROSINEMIA TYPE II STORIES

Tell your story and help others

Tell my story

Tyrosinemia type II forum

TYROSINEMIA TYPE II FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map