Also known as:
- TYR III
- tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
- tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
- tyrosinemia due to HPD deficiency
- tyrosinemia type III
Tyrosinemia, type III (TYR III) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. It is considered an amino acid condition because people with this condition are unable to break down the amino acid tyrosine. TYR III can cause learning problems, seizures, and loss of balance. However, detecting TYR III early and beginning treatment can prevent some of the serious outcomes of the condition.
Tyrosinemia is a condition with multiple forms, which each have different outcomes and treatment. Tyrosinemia, type III is only one form of the condition. Click on these links to read about the different forms of the condition: tyrosinemia type I or tyrosinemia type II.
Your baby’s doctor may ask you if your baby is showing any of the signs of TYR III (see Early Signs below). If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.
If your baby’s newborn screening result for tyrosinemia, type III (TYR III) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated TYR III can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve checking your baby’s urine and blood samples for signs of TYR III. Harmful levels of certain substances build up in the body when a child has an amino acid condition, so measuring the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. A high amount of tyrosine in the blood might indicate that your baby has TYR III.
About Tyrosinemia, type III
There are three types of tyrosinemia (I, II, and III). Tyrosinemia, type III (TYR III) is the least common type with less than twenty reported cases. Signs of TYR III are highly variable and not well known. Signs of TYR III may include:
- Poor coordination and balance
- Seizures (Epilepsy)
These signs may occur when your baby eats foods that his or her body cannot break down. They can be triggered by long periods of time without eating, illnesses, and infections.
If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.
Although the signs and symptoms of tyrosinemia, type III (TYR III) are not well known, treatment is still recommended to try to avoid any possible health complications for your child.
Your baby may need to be on a restricted diet in order to avoid certain proteins that his or her body cannot break down. Babies with TYR III may need to limit certain amino acids (phenylalanine, tyrosine, and methionine) in their diet. Amino acids are the building blocks of protein. These are all found in many proteins, and phenylalanine is also found in artificial sweeteners.
Special foods and formulas for children with TYR III are available. These formulas will likely need to continue through adulthood.
Your baby’s doctor might prescribe a medication called NTBC. NTBC helps lower amino acid levels in the blood. Everyone has some amino acids in his or her blood, but the high levels associated with TYR III can be toxic.
Babies who are treated early for tyrosinemia, type III (TYR III) may never develop any signs. This is why newborn screening for TYR III is so important.
Children with TYR III do have a risk of having an intellectual disability, but this risk is lower when the child receives treatment.
When we eat food, enzymes help break it down. Some enzymes help break down proteins into their building blocks, called amino acids. Other enzymes break down these amino acids. In tyrosinemia, type III (TYR III), the 4-hydrocyphenylpyruvate dioxygenase (HPD) is not working correctly.
HPD’s job is to break down the amino acid tyrosine. Babies with TYR III do not make enough HPD. When HPD is not working correctly, the body cannot break down tyrosine. This causes tyrosine and other amino acids (methionine and phenylalanine) to build up in the body, which can be toxic. When HPD cannot break down tyrosine correctly, tyrosine may be converted into a harmful acid called homogentisic acid. If homogentisic acid builds up in the body, it can be dangerous. Everyone has some acid and amino acids in his or her blood, but the high levels associated with TYR III can be toxic.
TYR III is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for TYR III, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with TYR III is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
Support for Tyrosinemia, type III
Support groups can help connect families who have a child or other family member affected with tyrosinemia, type III with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a doctor specializing in metabolism, a dietician who can help plan your child’s specialized diet, and other medical resources in your community. Depending on the symptoms your baby experiences, your baby’s doctor may work with other physicians who specialize in the brain and nervous system. Some children with tyrosinemia, type III (TYR III) have developmental delays. If you think that your baby is not meeting his or her developmental milestones, ask your baby's health care provider about the next steps in accessing a developmental evaluation and care.
Because TYR III is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for TYR III, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good places for you or your baby's health care provider to use to identify local specialists.
States Screening for Tyrosinemia, type III
|State||Screens for this condition?|
|District of Columbia||Yes|