title: Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.
abstract: Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism caused by a mutation in the GLA gene. We sequenced the α-galactosidase A gene (GLA) of a patient who had been clinically diagnosed with late-onset Fabry disease. Abundant globotriaosylceramide was present in his urine, which indicated typical Fabry disease. Here, we report a novel hemizygous mutation, c.207C>A (Phe69 Leu), which caused a mild/late-onset form of Fabry disease.
authors.affiliation: Advanced Clinical Research Center, Institute for Neurological Disorders , Kanagawa, Japan.
authors.forename: Toshiko
authors.initials: T
authors.lastname: Umeda
authors.affiliation: Department of Nephrology, NTT East Japan Sapporo Hospital , Sapporo, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Hashimoto
authors.affiliation: Department of Cardiovascular Medicine, NTT East Japan Sapporo Hospital , Sapporo, Japan.
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Noriyasu
authors.affiliation: Department of Biological Regulation School of Health Science Faculty of Medicine, Tottori University , Tottori, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Takamura
authors.affiliation: Advanced Clinical Research Center, Institute for Neurological Disorders, Kanagawa, Japan; Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Miwa
authors.initials: M
authors.lastname: Fujisaki
authors.affiliation: Advanced Clinical Research Center, Institute for Neurological Disorders, Kanagawa, Japan; Department of Nephrology, NTT East Japan Sapporo Hospital, Sapporo, Japan.
authors.forename: Yoshikatsu
authors.initials: Y
authors.lastname: Eto