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Medium-chain acyl-CoA Dehydrogenase Deficiency (MCADD)

The test used to screen for MCADD is octanoylcarnitine (C8), which is measured by tandem mass spectrometry.

Initial clinical investigation, follow-up and treatment are carried out by the metabolic team at RMCH.

In the case of a positive MCADD result on screening, the specialist metabolic nurse will telephone the relevant community midwife to check that the baby is fit and well and taking oral feeds normally. An urgent appointment is made at RMCH for the following day (e.g. babies referred on Fridays are seen on Saturday). If there are any concerns, the baby should be admitted to the local hospital immediately.

Diagnostic testing includes urine organic acid analysis and mutation analysis.