Medium chain acyl dehydrogenase deficiency (MCADD) is diagnosed by a screening test (blood test) that is offered to all newborn babies.
During the screening test, the midwife takes some blood from your baby's heel. The amount of partially broken-down fat, called octanoylcarnitine (c8), is measured in the blood sample.
If the test result suggests that your baby may have MCADD, he or she will need further tests to confirm the diagnosis. You will be given an appointment to see a specialist or a dietitian.
Next appointment
The specialist or dietitian will:
- discuss the screening test result with you
- arrange for your baby to have a blood test and a urine test
- give you more advice about feeding your baby until the results of these further tests are known
- support you now and in the future if your baby has MCADD
- give you advice on what to do if your baby is not feeding well for any reason
- let your family doctor know about your baby's tests and MCADD
- give you written information about MCADD to share with your family and local hospital
