There are actually three types of the disease called Tyrosinemia, but in this post, we’re only going to focus on Type I.
Tyrosinemia, type 1 (TYR 1) is a genetic disorder in which a patient’s body cannot eradicate specific materials, commonly known as amino acids, or tryosine, which make up protein.
Tyrosinemia, type 1 is the most severe form and is extremely rare. The disease affects about 1 in 100,000 people around the world. Symptoms typically begin early in a person’s life, during the first few months after birth.
Tell-Tale Signs:
- Infant not gaining weight, “failure to thrive”
- Diarrhea and vomiting
- Yellow skin and eyes, jaundice
- An odd odor, similar to cabbage
- Nosebleeds
- Heavy sleeping
- Fatigue
- Irritability
- Swollen legs or stomach
- Difficulty breathing
- Delayed development
If your new baby seems to be experiencing any of these symptoms, see your doctor immediately, as Tyrosenemia could lead to liver or kidney failure, rickets, or liver cancer.
Your doctor can perform a newborn screening to determine whether or not your child has the disease. From there, treatment can be discussed.
If you or your child is diagnosed with Tyrosenemia, it’s of paramount importance to seek support and connect with people just like you. By joining a community of people on a similar journey, families can do their part in the collaborative effort to find answers and spread awareness.
Resources:
- Baby’s First Test (original article)
- Intermountain PKU & Allied Disorders Association (IPAD)
- Financial, Ethical, Legal and Social Issues (FELSI)
- Genetics Home Reference
- Illinois Department of Public Health
