At a Glance
Approximate Incidence in Ontario
Unknown as so rare
Screening can Prevent
Cardiomyopathy, hypotonia, hepatomegaly, encephalopathy, coma, death
Carnitine supplementation, avoid fasting
- 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 Carnitine Uptake Defect (CUD).
- A screen positive result means that more tests are needed to know whether or not a baby has CUD. It does not mean that a baby has CUD. Babies identified at a young age through screening can be treated early to help prevent health problems.
- What is CUD?Open
CUD is a rare, inherited (genetic) disease.
- Babies with CUD have trouble absorbing a protein called carnitine into their cells.
- The cells need carnitine to make certain types of fat into energy.
- Fats are an important source of energy for the muscles, brain, and heart, especially between meals.
- Screening Positive for CUDOpen
- 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 CUD. It means that there is a chance that the baby may have CUD.
- Follow-up testing is important to find out whether the baby truly has CUD.
- 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 blood and urine tests will be arranged as soon as possible. Testing may also be done for the baby’s mother.
- It can take a few days to weeks to find out if a baby truly has CUD or not. This waiting period can be hard for families.
- Possible Follow-up Test ResultsOpen
- Normal – the baby does not have CUD.
- Abnormal – the baby does have CUD 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
Without treatment, symptoms can range from absent to severe.
While most babies with CUD are normal at birth, early signs of the disease can include:
- Poor growth
- Excessive tiredness
- Failure to feed properly
- Sweating while feeding (due to heart failure)
- Muscle weakness (may not happen in the newborn and early period)
- Large liver
Early treatment helps to prevent serious and life-threatening health problems such as:
- Heart failure
- Metabolic crisis - a serious health condition caused by low blood sugar and/or the build-up of harmful substances in the blood. If a metabolic crisis is not treated, breathing problems, seizures, coma, brain damage and sometimes death can occur.
Symptoms of a metabolic crisis are:
- Poor feeding
- Excessive sleepiness
Screening and treatment aim to prevent metabolic crises and help children with CUD lead healthy lives.
CUD is easily treated.
- Medication (large doses of carnitine)
- Babies with CUD should not go for long periods of time without eating.
- A diet low in certain fats is sometimes recommended.
- Treatment begins as early as possible and is life long.
- A team, including a metabolic doctor and a dietitian, cares for babies with CUD.
- Babies with CUD have their health and development checked regularly.
- Regular follow-up tests are used to monitor and adjust treatments.
- Living with CUDOpen
With early detection and careful treatment, children with CUD are usually as healthy and intelligent as other children their age.