Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.
Carnitine palmitoyl transferase I (CPT I) deficiency is a rare disorder of long-chain fatty acid oxidation. It is one of the metabolic diseases detectable by tandem mass spectrometry. We report herein a presymptomatic CPT I deficiency detected in a Japanese female newborn by tandem mass spectrometry newborn screening. A mutation analysis of the CPT1A gene revealed two novel mutations, p.R446X and p.G719D.
Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
Rie
R
Tsuburaya
Osamu
O
Sakamoto
Natsuko
N
Arai
Hironori
H
Kobayashi
Yuki
Y
Hasegawa
Seiji
S
Yamaguchi
Yosuke
Y
Shigematsu
Masaki
M
Takayanagi
Toshihiro
T
Ohura
Shigeru
S
Tsuchiya
D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000503:physiopathology; D015997:Neonatal Screening / Q000379:methods*; D053719:Tandem Mass Spectrometry / Q000379:methods*
D002334:Carnitine O-Palmitoyltransferase