Initial dried blood spot and follow up assays in 12 babies with persistently increased octanoylcarnitine and at least one copy of A985G
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Patients 1–11 were assigned a diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, and patient 12 was considered to be a carrier at low risk of developing symptoms. +/+, homozygous for A985G; +/−, heterozygous for A985G; Ole, oleate; Myr, myristate; O:M, oleate to myristate ratio; C4, butyrylcarnitine; C6, hexanoylcarnitine; C8, octanoylcarnitine; C10, decanoylcarnitine; C10:1, decenoylcarnitine; ND, not detected; NP, not performed; NI, not increased; +++, grossly elevated; ++, moderately increased; +, slightly increased; TR, trace increase.
