Article
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.
Molecular genetics and metabolism - 1 May 2018
Itagaki Rina, Endo Masahiro, Yanagisawa Hiroko, Hossain Mohammad Arif, Akiyama Keiko, Yaginuma Keiko, Miyajima Takashi, Wu Chen, Iwamoto Takeo, Igarashi Junko, Kobayashi Yu, Tohyama Jun, Iwama Kazuhiro, Matsumoto Naomichi, Shintaku Haruo, Eto Yoshikatsu
Abstract excerpt
We first characterized PPT1 and TPP1 enzymes in dried blood spots (DBS), plasma/serum, and leukocytes/lymphocytes using neuronal ceroid lipofuscinosis (NCL) 1 and 2 patients and control subjects. PPT1 enzyme had only one acid form in control DBS, plasma/serum, and leukocytes/lymphocytes and showed deficient activities in these samples from NCL 1 patients. Conversely, TPP1 enzymes in control DBS and...
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