Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G&gt;A)

Liao, Hsuan Chieh; Huang, Yu-Ren; Chen, Yann Jang; Kao, Shu Min; Lin, Hui-Chen; Huang, Chun Kai; Liu, Hao Chuan; Hsu, Ting-Rong; Lin, Shuan Pei; Yang, Chia Feng; Fann, Cathy S.J.; Chiu, Pao Chin; Hsieh, Kai‐Sheng; Fu, Yun Ching; Ke, Yu; Lin, Ching Yuang; Tsai, Fuu Jen; Wang, Chung Hsing; Chao, Mei; Yu, Wen Chung; Chiang, Chuan Chi; Niu, Dau Ming

doi:10.1016/j.cca.2013.09.008

Cited by 35 publications

(30 citation statements)

References 43 publications

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“…This widely diffusible lyso-Gb 3 might have the capacity to induce cell damage via some mechanism that we do not yet understand well. Interestingly, in a previous study on our IVS4 patients, we also found only lyso-Gb 3 levels, not Gb 3 , elevated in our symptomatic male and female patients, and these lyso-Gb 3 levels also appeared to positively correlate with the severity of cardiac manifestations (Liao et al 2013). Since we found that serum lysoGb 3 can be elevated in both male and female infants, does this mean that cardiac manifestations are induced after a long and insidious course of elevated lyso-Gb 3 ?…”

Section: Discussionsupporting

confidence: 66%

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

Liu

Perrin²,

Hsu

et al. 2015

JIMD Reports

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This is a descriptive analysis of a cohort of 59 Taiwanese patients with Fabry disease and either classical Fabry or cardiac variant IVS4+919G>A (IVS4) mutations from a disease registry, the Fabry Outcome Survey (FOS; sponsored by Shire). Most of our classical Fabry patients were symptomatic and were identified upon seeking medical advice at our clinics, whereas most of our IVS4 patients attended our clinics after newborn screening identified this mutation in their grandsons. The objective was to determine differences in cardiac manifestations between patients with classical Fabry or IVS4 mutations by comparing age at onset of selected cardiac symptoms.

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Section: Discussionsupporting

confidence: 66%

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

Liu

Perrin²,

Hsu

et al. 2015

JIMD Reports

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“…The preparation and analysis of the samples was described in our previous publication [13]. Control samples were obtained from 31 healthy adults (16 males and 15 females).…”

Section: Methodsmentioning

confidence: 99%

“…Our previous studies revealed that globotriaosylsphingosine (lyso-Gb3) has high diagnostic sensitivity and correlates with left ventricular mass (LVM), taking into account gender and age in our late-onset Fabry patients [13]. However, its use as a biomarker to monitor the therapeutic outcome of enzyme replacement therapy (ERT) has not been carefully evaluated in our late-onset Fabry patients.…”

Section: Introductionmentioning

confidence: 99%

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

Liu

Lin

Yang

et al. 2014

Orphanet J Rare Dis

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BackgroundIn Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes and suitable biomarkers for monitoring the therapeutic outcomes of these patients are largely unknown.MethodsFabry disease (FD) patients who had received enzyme replacement therapy (ERT) for more than 1 year were enrolled in this study from December 2008 to April 2013. Periodic echocardiography and serum globotriaosylsphingosine (lyso-Gb3) analysis were carried out. Before and after ERT, left ventricular mass index (LVMI) and serum lyso-Gb3 level were compared and the correlation between the change of LVMI and the change of serum lyso-Gb3 were also analyzed.ResultsThirty-six patients, in four patient groups, were enrolled: (1) 16 males with IVS4 + 919G > A mutation; (2) 7 females with IVS4 + 919G > A mutation; (3) 2 males with classical mutations; and (4) 11 females with classical mutations. The follow-up period was 13–46 months. There were significant LVMI reductions after ERT in all four groups after excluding confounding factors. However, interestingly, serum lyso-Gb3 decreased significantly in the early period after ERT in all groups, but increased gradually after an average of 11.1 months after ERT in late-onset male and female Fabry groups, even when their LVMI still decreased or remained stable. Furthermore, there was no correlation between the change of serum lyso-Gb3 and the change of LVMI in both classical and IVS4 + 919G > A FD patients.ConclusionAlthough lyso-Gb3 has a high diagnostic sensitivity in late-onset Fabry patients and has a good response to ERT during the early stages, it might not be a reliable marker for monitoring the long-term therapeutic outcomes of ERT for late-onset Fabry patients with the Chinese hotspot mutation (IVS4 + 919G > A).

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“…50 Another disease biomarker detectable in blood is globotriaosylsphingosine, but its usefulness in the neonatal period and in the context of NBS requires more study. [51][52][53] ERT became available for Fabry disease treatment in the early 2000s, leading to significant improvements unless irreversible damage has already occurred. Accordingly, early detection of Fabry disease through NBS is expected to dramatically improve the outcome of affected patients.…”

Section: Newborn Screening For Fabry Diseasementioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)

Cited by 35 publications

References 43 publications

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

Newborn screening for lysosomal storage disorders

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