Medium-chain acyl-coenzyme A dehydrogenase deficiency

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A problem with the enzyme medium-chain acyl-CoA dehydrogenase coded at 1p31 which results in:

  • Lethargy and failure to thrive
  • Intolerance to fasting
  • Ketotic hypoglycemic coma
  • Medium-chain dicarboxylic aciduria
  • ↓ plasma and tissue carnitine
  • Cardiac arrhythmias
  • Death if not recognised


Commonest mutation in northern Europeans is a single base-pair change (985A>G).


Neonatal screening in the UK includes this, blood spots from new-borns are assayed for C8-acylcarnitine.

Abbreviated as MCADD. In 2011, the England & Wales NPSA circulated an alert toward GPs about identifying carriers.

MCAD is important as one of the known causes of cot death (Sudden Unexpected Death in Infancy). Unfortunately it was traditionally mainly diagnosed at post-mortem and then screened for in subsequent siblings. It is now a part of the UK neonatal screening programme. Where there is a family history of cot death in general, and MCAD in particular, it is useful to ensure that the obstetric/midwifery team know to alert the paediatric team for further consideration. If there is a previous confirmed diagnosis in the family, genetic advice can be sought before pregnancy. MCAD can cause significant hypoglycaemia and metabolic acidosis when there is no easily accessible energy source.

Key learning points:

1) Ensure family history passed on appropriately

2) Ensure regular feeding of babies, including after 3 months when this may otherwise become spaced out

3) Beware of acute illnesses with raised metabolic requirements: families are often provided with a special carbohydrate drink to use in these circumstances

4) In the event of a vomiting illness they need urgent assessment and probably admission by the paediatric team

5) Think of MCAD in a baby or small child who appears sick out of all proportion to the described illness, especially with vomiting illnesses

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