Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease

Carly A. Rasmussen; Allegra Quadri; Erika Vucko; Katherine Kim; Rachel Hickey; Joshua J. Baker; Joel Charrow; Carlos E. Prada

doi:10.1016/j.ymgme.2023.107736

Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease

Carly A. Rasmussen, Allegra Quadri, Erika Vucko, Katherine Kim, Rachel Hickey, Joshua J. Baker, Joel Charrow, Carlos E. Prada^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in Gaucher disease. Data from adults show that higher values of lyso-GL1 are associated with increased disease progression, however similar data in the pediatric population is lacking. In a cohort of pediatric patients, we present a relationship between lyso-GL1 value and Gaucher type, age, and treatment response. Data from this study may serve as a reference for providers monitoring children with Gaucher disease.

Original language	English (US)
Article number	107736
Journal	Molecular Genetics and Metabolism
Volume	141
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2023.107736
State	Published - Jan 2024

Funding

CR fellowship was funded by Sanofi Educational grant ( #GR001233-03 ).

Keywords

Biomarker
Gaucher disease
Glucosylsphingosine
Lysosomal storage diseases
Neuronopathic

ASJC Scopus subject areas

Genetics
Endocrinology
Molecular Biology
Biochemistry
Endocrinology, Diabetes and Metabolism

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ymgme.2023.107736

Cite this

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abstract = "Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in Gaucher disease. Data from adults show that higher values of lyso-GL1 are associated with increased disease progression, however similar data in the pediatric population is lacking. In a cohort of pediatric patients, we present a relationship between lyso-GL1 value and Gaucher type, age, and treatment response. Data from this study may serve as a reference for providers monitoring children with Gaucher disease.",

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AU - Rasmussen, Carly A.

AU - Quadri, Allegra

AU - Vucko, Erika

AU - Kim, Katherine

AU - Hickey, Rachel

AU - Baker, Joshua J.

AU - Charrow, Joel

AU - Prada, Carlos E.

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AB - Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in Gaucher disease. Data from adults show that higher values of lyso-GL1 are associated with increased disease progression, however similar data in the pediatric population is lacking. In a cohort of pediatric patients, we present a relationship between lyso-GL1 value and Gaucher type, age, and treatment response. Data from this study may serve as a reference for providers monitoring children with Gaucher disease.

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KW - Glucosylsphingosine

KW - Lysosomal storage diseases

KW - Neuronopathic

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Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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