Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?

Abstract excerpt

Patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are unable to metabolize medium-chain fatty acids. Affected patients display a characteristic acylcarnitine profile when blood spots are collected after birth and analysed by tandem mass spectrometry. To determine the potential r...

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