At a Glance
Approximate Incidence in Ontario
1 in 100, 000
Tyrosine and succinylacetone
Screening can Prevent
Liver and kidney damage and sequelae, failure to thrive, coagulopathy
Special diet, medication
- Screening is ImportantOpen
- In Ontario, a heel prick is used to take a few drops of blood from each baby shortly after birth. The blood is tested for more than 25 treatable diseases, including Tyrosinemia Type 1.
- A screen positive result means that more tests are needed to know whether or not a baby has tyrosinemia. It does not mean that a baby has Tyrosinemia. Babies identified at a young age through screening can be treated early to help prevent health problems.
- What is Tyrosinemia Type 1?Open
Tyrosinemia Type 1 is a rare, inherited (genetic) disease.
- Babies with Tyrosinemia cannot break down tyrosine.
- Tyrosine is a building block of protein (also called an amino acid). It is found in many foods, including breast milk and infant formula.
- There are other rare forms of tyrosinemia (types II and III), which can sometimes be picked up by newborn screening.
- Screening Positive for Tyrosinemia Type 1Open
- It is normal for parents and guardians to feel worried when their baby has a screen positive result. A ‘screen positive’ result does not mean that a baby has Tyrosinemia. It means that there is a chance that the baby may have Tyrosinemia.
- Follow-up testing is important to find out whether the baby truly has Tyrosinemia.
- The baby’s health care provider or a health care provider at a newborn screening Regional Treatment Centre will discuss the results with the baby’s family.
- Follow-up testing is arranged as soon as possible and involves blood and urine tests.
- It can take a few days to weeks to find out if a baby truly has tyrosinemia or not. This waiting period can be hard for families.
- Possible Follow-up Test ResultsOpen
- Normal – the baby does not have Tyrosinemia.
- Abnormal – the baby does have Tyrosinemia and will need treatment. The family will be supported by a team of caring specialists.
- Inconclusive – more testing is required. The baby will be followed closely by a specialist to ensure that he/she receives optimal care.
- Signs and SymptomsOpen
While most babies with Tyrosinemia appear normal at birth, early signs of the disease can include:
- poor weight gain (failure to thrive)
- feeding problems
- extreme sleepiness (lethargy)
- yellowing of the whites of the eyes and skin (jaundice)
- distinctive cabbage-like odor of the skin and urine
Early treatment helps to prevent serious and life threatening health problems such as:
- developmental delay
- liver and kidney disease
- neurological problems
Treatment for Tyrosinemia Type 1 begins as early as possible and is life long.
- Treatment may include medication and a special diet that is low in protein (low in tyrosine).
- A team, including a metabolic doctor and a dietitian, cares for babies with tyrosinemia.
- Babies with Tyrosinemia have their health and development checked regularly.
- Regular follow-up tests are used to monitor and adjust treatments.
- Living with Tyrosinemia Type 1Open
- Children with Tyrosinemia can be as healthy and intelligent as other children their age if tyrosine levels are well managed with diet and medication.
- If liver damage has already occurred, or if it occurs, a small number of children with tyrosinemia will require a liver transplant.