title: Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea.
abstract: OBJECTIVE
  Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening.
  
  
  METHODS
  A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy.
  
  
  RESULTS
  Twenty-nine patients had elevated serum GL3 levels. The α-GaL A activity was determined for the 26 patients with high GL3 levels. The mean α-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased α-GaL A activity. Among the group with high GL3 levels, 15 women had a α-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and α-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease.
  
  
  CONCLUSIONS
  Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease.
authors.affiliation: Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Jeong-Yup
authors.initials: JY
authors.lastname: Kim
authors.forename: Young-Youl
authors.initials: YY
authors.lastname: Hyun
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Yoon
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Seong-Tae
authors.initials: ST
authors.lastname: Cho
authors.forename: No-Won
authors.initials: NW
authors.lastname: Chun
authors.forename: Byoung-Chunn
authors.initials: BC
authors.lastname: Jeoung
authors.forename: Hwa-Jung
authors.initials: HJ
authors.lastname: Kim
authors.forename: Keong-Wook
authors.initials: KW
authors.lastname: Kim
authors.forename: Seong-Nam
authors.initials: SN
authors.lastname: Kim
authors.forename: Yung-A
authors.initials: YA
authors.lastname: Kim
authors.forename: Hyun-Ah
authors.initials: HA
authors.lastname: Lee
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Yung-Chun
authors.initials: YC
authors.lastname: Lee
authors.forename: Hun-Kwan
authors.initials: HK
authors.lastname: Lim
authors.forename: Keong-Sik
authors.initials: KS
authors.lastname: Oh
authors.forename: Seong-Hwan
authors.initials: SH
authors.lastname: Son
authors.forename: Beong-Hee
authors.initials: BH
authors.lastname: Yu
authors.forename: Kyeong-So
authors.initials: KS
authors.lastname: Wee
authors.forename: Eun-Jong
authors.initials: EJ
authors.lastname: Lee
authors.forename: Young-Ki
authors.initials: YK
authors.lastname: Lee
authors.forename: Jung-Woo
authors.initials: JW
authors.lastname: Noh
authors.forename: Seung-Jung
authors.initials: SJ
authors.lastname: Kim
authors.forename: Kyu-Bok
authors.initials: KB
authors.lastname: Choi
authors.forename: Suk-Hee
authors.initials: SH
authors.lastname: Yu
authors.forename: Heui-Jung
authors.initials: HJ
authors.lastname: Pyo
authors.forename: Young-Joo
authors.initials: YJ
authors.lastname: Kwon
mesh_terms: D000328:Adult; D000368:Aged; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000097:blood / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D006435:Renal Dialysis; D014281:Trihexosylceramides / Q000097:blood*; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism
chemical_list: D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase