A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
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ABSTRACT:
SUBMITTER: Chinen Y
PROVIDER: S-EPMC5311055 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
Chinen Yasutsugu Y Nakamura Sadao S Yoshida Tomohide T Maruyama Hiroki H Nakamura Kimitoshi K
Human genome variation 20170216
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the <i>GLA</i> gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history. ...[more]
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