The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

doi:10.1016/j.ymgmr.2021.100729

Case Reports

. 2021 Feb 8:27:100729.

doi: 10.1016/j.ymgmr.2021.100729. eCollection 2021 Jun.

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Ashlee R Stiles^{1

2}, Erin Huggins¹, Luca Fierro³, Seung-Hye Jung¹, Manisha Balwani³, Priya S Kishnani¹

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
² Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
³ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

PMID: 33614410
PMCID: PMC7876627
DOI: 10.1016/j.ymgmr.2021.100729

Free PMC article

Case Reports

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Ashlee R Stiles et al. Mol Genet Metab Rep. 2021.

Free PMC article

. 2021 Feb 8:27:100729.

doi: 10.1016/j.ymgmr.2021.100729. eCollection 2021 Jun.

Authors

Ashlee R Stiles^{1

2}, Erin Huggins¹, Luca Fierro³, Seung-Hye Jung¹, Manisha Balwani³, Priya S Kishnani¹

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
² Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
³ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

PMID: 33614410
PMCID: PMC7876627
DOI: 10.1016/j.ymgmr.2021.100729

Abstract

Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation.

Keywords: Glucosylsphingosine; Lyso-Gb1; Monitoring; Pediatric; Type 1 Gaucher disease; p.N409S.

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Figures

**Fig. 1**
Biomarker values in (A) Patient 1 and (B) Patient 2. Vertical dotted line denotes start of treatment with ERT.

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References

1. Kaplan P., Andersson H.C., Kacena K.A., Yee J.D. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch. Pediatr. Adolesc. Med. 2006;160(6):603–608. - PubMed
1. Ferraz M.J., Kallemeijn W.W., Mirzaian M., Herrera Moro D., Marques A., Wisse P., Boot R.G., Willems L.I., Overkleeft H.S., Aerts J.M. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochim. Biophys. Acta. 2014;1841(5):811–825. - PubMed
1. DEC Boer, van Smeden J., Bouwstra J.A., Aerts J. Glucocerebrosidase: functions in and beyond the lysosome. J. Clin. Med. 2020;9(3) - PMC - PubMed
1. Murugesan V., Chuang W.L., Liu J., Lischuk A., Kacena K., Lin H., Pastores G.M., Yang R., Keutzer J., Zhang K. Glucosylsphingosine is a key biomarker of Gaucher disease. Am. J. Hematol. 2016;91(11):1082–1089. - PMC - PubMed
1. Bobillo Lobato J, Jimenez Hidalgo M, Jimenez Jimenez LM: Biomarkers in Lysosomal Storage Diseases. Diseases 2016, 4(4).

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[1] Kaplan P., Andersson H.C., Kacena K.A., Yee J.D. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch. Pediatr. Adolesc. Med. 2006;160(6):603–608. - PubMed

[2] Kaplan P., Andersson H.C., Kacena K.A., Yee J.D. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch. Pediatr. Adolesc. Med. 2006;160(6):603–608. - PubMed

[3] Ferraz M.J., Kallemeijn W.W., Mirzaian M., Herrera Moro D., Marques A., Wisse P., Boot R.G., Willems L.I., Overkleeft H.S., Aerts J.M. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochim. Biophys. Acta. 2014;1841(5):811–825. - PubMed

[4] Ferraz M.J., Kallemeijn W.W., Mirzaian M., Herrera Moro D., Marques A., Wisse P., Boot R.G., Willems L.I., Overkleeft H.S., Aerts J.M. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochim. Biophys. Acta. 2014;1841(5):811–825. - PubMed

[5] DEC Boer, van Smeden J., Bouwstra J.A., Aerts J. Glucocerebrosidase: functions in and beyond the lysosome. J. Clin. Med. 2020;9(3) - PMC - PubMed

[6] DEC Boer, van Smeden J., Bouwstra J.A., Aerts J. Glucocerebrosidase: functions in and beyond the lysosome. J. Clin. Med. 2020;9(3) - PMC - PubMed

[7] Murugesan V., Chuang W.L., Liu J., Lischuk A., Kacena K., Lin H., Pastores G.M., Yang R., Keutzer J., Zhang K. Glucosylsphingosine is a key biomarker of Gaucher disease. Am. J. Hematol. 2016;91(11):1082–1089. - PMC - PubMed

[8] Murugesan V., Chuang W.L., Liu J., Lischuk A., Kacena K., Lin H., Pastores G.M., Yang R., Keutzer J., Zhang K. Glucosylsphingosine is a key biomarker of Gaucher disease. Am. J. Hematol. 2016;91(11):1082–1089. - PMC - PubMed

[9] Bobillo Lobato J, Jimenez Hidalgo M, Jimenez Jimenez LM: Biomarkers in Lysosomal Storage Diseases. Diseases 2016, 4(4).

[10] Bobillo Lobato J, Jimenez Hidalgo M, Jimenez Jimenez LM: Biomarkers in Lysosomal Storage Diseases. Diseases 2016, 4(4).

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The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

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The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

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