Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Abstract

BACKGROUND Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly because reliable indices are not available. METHODS We diagnosed CPT II deficiency in a 7-month-old boy… (More)
DOI: 10.1016/j.ymgme.2017.07.011

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@article{Tajima2017NewbornSF, title={Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.}, author={Go Tajima and Keiichi Hara and Miyuki Tsumura and Reiko Kagawa and Satoshi Okada and Nobuo Sakura and Shinsuke Maruyama and Atsuko Noguchi and Tomonari Awaya and Mika Ishige and Nobuyuki Ishige and I Musha and Sayaka Ajihara and Akira Ohtake and Etsuo Naito and Yusuke Hamada and Tomotaka Kono and Tomoko Asada and Hideo Sasai and Toshiyuki Fukao and Ryoji Fujiki and Osamu Ohara and Ryosuke Bo and Kenji Yamada and Hironori Kobayashi and Yuki Hasegawa and Seiji Yamaguchi and Masaki Takayanagi and Ikue Hata and Yosuke Shigematsu and Masao Kobayashi}, journal={Molecular genetics and metabolism}, year={2017}, volume={122 3}, pages={67-75} }