Article
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Molecular genetics and metabolism - 1 Nov 2017
Tajima Go, Hara Keiichi, Tsumura Miyuki, Kagawa Reiko, Okada Satoshi, Sakura Nobuo, Maruyama Shinsuke, Noguchi Atsuko, Awaya Tomonari, Ishige Mika, Ishige Nobuyuki, Musha Ikuma, Ajihara Sayaka, Ohtake Akira, Naito Etsuo, Hamada Yusuke, Kono Tomotaka, Asada Tomoko, Sasai Hideo, Fukao Toshiyuki, Fujiki Ryoji, Ohara Osamu, Bo Ryosuke, Yamada Kenji, Kobayashi Hironori, Hasegawa Yuki, Yamaguchi Seiji, Takayanagi Masaki, Hata Ikue, Shigematsu Yosuke, Kobayashi Masao
Abstract excerpt
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 presenting with hypoglycemic encephalopathy, which apparently...
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