A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.

ABSTRACT: 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 GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.

SUBMITTER: Chinen Y 

PROVIDER: S-EPMC5311055 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature