A closer look Medium-chain acyl-CoA dehydrogenase deficiency

MCAD

Eva Björk Guðmundsdóttir

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

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

Genotype

• Sleepiness or little energy

• Behavior changes

• Irritable mood

• Poor appetite

• Seizures

• Coma

Signs and Symptoms

Treatment

• Avoid going a long time without food

• Diet

• L-carnitine ?

A closer look

Confirmation of diagnosis

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

Treatment at home

At the hospital

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

Support

Einstök Börn (Unique Children)

Questions?