Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.

Abstract	We report the application of tandem mass spectrometry to prospective newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. MCAD deficiency is diagnosed from dried blood spots on filter paper cards from newborns on the basis of the increase of medium chain length acylcarnitines identified by isotope dilution mass spectrometry methods. A robust and accurate semiautomated method for the analysis of medium chain length acylcarnitines as their butyl esters was developed and validated. Quantitative data from the analyses of 113 randomly collected filter paper blood spots from healthy newborns showed low concentrations of medium chain length acylcarnitines such as octanoylcarnitine. The maximum concentration of octanoylcarnitine was 0.22 mumol/L, with the majority being at or below the detection limit. In all 16 blood spots from newborns with confirmed MCAD deficiency, octanoylcarnitine was highly increased [median 8.4 mumol/L (range 3.1-28.3 mumol/L)], allowing easy detection. The concentration of octanoylcarnitine was significantly higher in these 16 newborns (< 3 days of age) than in 16 older patients (ages 8 days to 7 years) with MCAD deficiency (median 1.57 mumol/L, range 0.33-4.4). The combined experience of prospective newborn screening in Pennsylvania and North Carolina has shown a disease frequency for MCAD deficiency of 1 in 17,706. No false-positive and no known false-negative results have been found. A validated method now exists for prospective newborn screening for MCAD deficiency.
Authors	D H Chace, S L Hillman, J L Van Hove, E W Naylor
Journal	Clinical chemistry (Clin Chem) Vol. 43 Issue 11 Pg. 2106-13 (Nov 1997) ISSN: 0009-9147 [Print] England
PMID	9365395 (Publication Type: Comparative Study, Journal Article)
Chemical References	Butanols Acyl-CoA Dehydrogenases Acyl-CoA Dehydrogenase octanoylcarnitine Carnitine
Topics	Acyl-CoA Dehydrogenase Acyl-CoA Dehydrogenases (deficiency) Butanols Carnitine (analogs & derivatives, blood) Humans Infant, Newborn Mass Spectrometry Prospective Studies Radioisotope Dilution Technique Reproducibility of Results Time Factors

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