Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
How MCADD is inherited
A child will onlybe born withMCADD ifthey inherit a copyof the faulty gene that causesit from both of theirparents.
The parents won't normallyhave thecondition themselves because they usually only have one copy of the faulty gene each. This is known as being a "carrier".
It's estimated that up to1 in every 40 people in the UKcould becarriers of the faulty gene that causes MCADD.
If both parents are carriers of the faulty gene, there's a:
- 25% chance each child they have will notinherit any faulty genes and won't have MCADD or be able to pass it on
- 50% chanceeach child they have will just inherit a copy of the faulty gene from one parent and be acarrier
- 25% chanceeach child they have will inheritcopies of the faulty gene from both parents and will have MCADD
The blood is then sent to a laboratory to be checked for abnormalities that could indicate MCADD.
You should receive the results by the time your baby is six to eight weeks old. You'll be contacted sooner if a problem is found in order to attend a hospital appointment to discuss this further.
The screening result isn't 100% accurate, so further urine and blood tests will be carried out to confirm the diagnosis. You, your partner and any other children you have may also be tested to see if you carry the faulty gene that causes MCADD.
If you've previously had a child with MCADD, theblood spottest should be carried out within 24-48 hours of birth.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
MCADD is a rare genetic condition where a person has problems breaking down fat for energy. Read about the symptoms, causes and outlook.
Is MCADD serious?
MCADD is a potentially serious condition that can be life-threatening if not recognised quicklyand treated appropriately. However, most cases are picked up soon after birth and can be managed quite e
Symptoms of MCADD
If someone with MCADD becomes unwell and is unable to eat or tolerate food, they may experience the following symptoms: appearing unusually tired and sluggish being sick excessive sweating rapid
What causes MCADD?
MCADD is caused bya fault in the gene that provides the instructionsto make anenzyme called medium-chain acyl-CoA dehydrogenase (MCAD). This genetic faultcausesthe enzymeto either not work properly o
How MCADD is inherited
A child will onlybe born withMCADD ifthey inherit a copyof the faulty gene that causesit from both of theirparents. The parents won't normallyhave thecondition themselves because they usually only ha
How MCADD is treated
There's nospecific treatmentfor MCADD.A specialist care teamwill give you advice about how tolook after your child and support them as they get older. Children and adults with MCADD can eat a normal
Information about you
If you or your child haveMCADD, your clinical team will pass information about you/them on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists l
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