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

ABSTRACT: Gaucher disease (GD), a lysosomal storage disorder caused by ?-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.

SUBMITTER: Stiles AR

PROVIDER: S-EPMC7876627 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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

Stiles Ashlee R AR Huggins Erin E Fierro Luca L Jung Seung-Hye SH Balwani Manisha M Kishnani Priya S PS

Molecular genetics and metabolism reports 20210208

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 ...[more]

PMID: 33614410

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Glucosylsphingosine is a key biomarker of Gaucher disease.

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