This document discusses medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a genetic disorder that affects the breakdown of fats. It is inherited in an autosomal recessive pattern. MCADD was added to newborn screening in Iceland in 2008 using a blood sample from the baby's heel. Symptoms can include sleepiness, behavior changes, irritability, poor appetite, and seizures. Treatment involves avoiding long periods without food and following a special diet. Children with MCADD managed through diet and treatment generally live normal lives.

1. A closer look
Medium-chain acyl-CoA
dehydrogenase deficiency
MCAD
Eva Björk Guðmundsdóttir

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

4. Genotype

5. Signs and Symptoms
• Sleepiness or little energy
• Behavior changes
• Irritable mood
• Poor appetite
• Seizures
• Coma

6. Treatment
• Avoid going a long time without food
• Diet
• L-carnitine ?

7. A closer look

8. Confirmation of diagnosis

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

10. Treatment at home

11. At the hospital

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

13. Support

14. Einstök Börn
(Unique Children)

16. Questions?