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Screening of carnitine and biotin deficiencies on tandem mass spectrometry
Author(s) -
Hagiwara Shinichiro,
Kubota Mitsuru,
Nambu Ryusuke,
Kagimoto Seiichi
Publication year - 2017
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13167
Subject(s) - medicine , carnitine , biotin , tandem mass spectrometry , mass spectrometry , chromatography , biochemistry , chemistry
Abstract Background It is important to assess pediatric patients for nutritional deficiency when they are receiving specific interventions, such as enteral feeding. We focused on measurement of C0 and 3‐hydroxyisovalerylcarnitine (C5‐ OH ) with tandem mass spectrometry ( MS / MS ), which is performed as part of the newborn mass screening. The purpose of this study was to investigate the usefulness of MS / MS for screening carnitine and biotin deficiencies. Methods Forty‐two children (24 boys, 18 girls) were enrolled between December 2013 and December 2015. Blood tests, including measurement of serum free carnitine via the enzyme cycling method, and acylcarnitine analysis on MS / MS of dried blood spot ( DBS ), were performed for the evaluation of nutrition status. Results Median patient age was 2 years (range, 2 months–14 years). Mean serum free carnitine was 41.8 ± 19.2 μmol/L. In six of the 42 patients, serum free carnitine was <20 μmol/L (range, 4.0–18.7 μmol/L). C0 and C5‐ OH measured on MS / MS of DBS were 33.8 ± 20.2 nmol/ mL and 0.48 ± 0.22 nmol/ mL , respectively. There was a strong positive correlation ( r = 0.89, P < 0.001) between serum free carnitine and C0 measured on the same day. In one patient on hydrolyzed formula, C5‐ OH was >1.00 nmol/L. Therapy‐resistant eczema was improved by treatment with additional biotin and a non‐hydrolyzed formula. Conclusion C0 and C5‐ OH , measured on MS / MS of DBS , were useful for screening carnitine and biotin deficiencies.