Mcadd_ Eva Björk

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  • Here is a graphic presentation of the diagnosis process.
  • .
  • Mcadd_ Eva Björk

    1. 1. A closer lookMedium-chain acyl-CoAdehydrogenase deficiencyMCADEva Björk Guðmundsdóttir
    2. 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. 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. 4. Genotype
    5. 5. Signs and Symptoms• Sleepiness or little energy• Behavior changes• Irritable mood• Poor appetite• Seizures• Coma
    6. 6. Treatment• Avoid going a long time without food• Diet• L-carnitine ?
    7. 7. A closer look
    8. 8. Confirmation of diagnosis
    9. 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. 10. Treatment at home
    11. 11. At the hospital
    12. 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. 13. Support
    14. 14. Einstök Börn(Unique Children)
    15. 15. Questions?

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