Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
Resource
Ann. Lab. Med., 33(4), 274-278
Journal
Ann. Lab. Med.
Journal Volume
33
Journal Issue
4
Pages
274-278
Date Issued
2013
Date
2013
Author(s)
Johnson, Britt
Mascher, Hermann
Mascher, Daniel
Legnini, Elisa
Hung, Christina Y.
Dajnoki, Angela
Chien, Yin-Hsiu
Abstract
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD. Lyso-Gb3 concentrations were analyzed in DBS following extraction using a novel HPLC-mass spectrometry (MS)/MS method. Lyso-Gb3 levels in DBS were above the lower limit of quantitation (0.28 ng/mL) in 5/17 newborn FD infants (16 males; range: 1.02-8.81 ng/mL), but in none of the newborn controls, in all 13 patients (4 males) with classic FD (range: 2.06-54.1 ng/mL), in 125/159 Taiwanese individuals with symptomatic or asymptomatic FD who carry the late onset a-galactosidase A (GLA) mutation c.936+919G>A (IVS4+919G>A) (3.75 +/- 0.69 ng/mL; range: 0.418-3.97 ng/mL) and in 20/29 healthy controls (0.77 +/- 0.24 ng/mL; range: 0.507-1.4 ng/mL). The HPLC-MS/MS method for analysis of lyso-Gb3 is robust and yields reproducible results in DBS in patients with FD. However, concentrations of lyso-Gb3 were below the limit of quantitation in most newborn infants with FD rendering this approach not suitable for newborn screening. In addition, most females with the late onset mutation have undetectable lyso-Gb3 concentrations.
Subjects
Fabry disease
Dried blood spot
Filter card
Tandem mass spectrometry
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