2. What is MCADD ?
• MCADD affects an enzyme needed to break down fats in the
food we eat, so they can be used for energy and growth. In
MCADD, an enzyme used to break down fats is missing or not
working properly.
• MCADD is inherited in an autosomal recessive manner. It
affects both boys and girls equally.
• Frequency 1:10.000
3. Newborn screening
• Newborn screeing started in Iceland in
1972 for PKU
– Expanded (MSMS) in 2008
• Sample of blood taken from baby´s
heel 72 hours after birth
• Abnormal result
– Further blood and urine testing
9. Caring
• 0-4 months – feeding every 4 hours
• Regular doctors appointments
- measuring carnitine and general check up
• Three extra months maternity leave
• Parental payments from Social Insurances for 5 months
12. Future prospects
• Children with MCADD
generally do not show any
symptoms and live a normal
life
• Diet consisting of less than
30% fat
• Extra strain on the body, i.e.
pregnancy, sports etc.
demand more energy