Glucosylfingosine (Lyso-GL1) may be the primary biomarker for screening Gaucher disease in Russian patients

Savostyanov, Kirill; Pushkov, Alexander; Mura’vova, Lubov’; Movsisyan, G.B.; Rykunova, Anastasia; Ponomarev, R V; Лукина, К. А.; Lukina, Elena; Namazova-Baranova, Leyla

doi:10.1016/j.ymgme.2018.12.334

Cited by 3 publications

(4 citation statements)

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“…Since the literature search for this systematic review was conducted, additional data on the value of lyso-Gb1 as a biomarker in GD have been published. Lyso-Gb1 measured in dried blood spots was found to be highly sensitive and specific for GD in a case-control study conducted in the Russian Federation [ 118 ]. Further, the diagnostic laboratory work-up by Fuller et al [ 41 ] showing the capacity of elevated plasma lyso-Gb1 to identify patients with GD with 100% sensitivity and specificity was extended successfully to testing using dried blood spots and, additionally, samples in a prenatal setting [ 119 ].…”

Section: Discussionmentioning

confidence: 99%

“…Data from these studies additionally suggest that lyso-Gb1 concentrations measured in dried blood spots have prognostic power [ 118 , 119 ]. Plasma lyso-Gb1 concentrations were found to be significantly higher in patients with neuronopathic GD than in those with non-neuronopathic disease, even in the neonatal period [ 119 ].…”

Section: Discussionmentioning

confidence: 99%

“…A neonate diagnosed at 1 day of age (homozygous for N370S), owing to an affected older sibling, had a plasma lyso-Gb1 level of 70 nmol/L compared with 1070–2620 nmol/L for four neuronopathic patients diagnosed at <20 days of age [ 119 ]. Lyso-Gb1 measured in dried blood spots also correlated with hepatomegaly and splenomegaly in the Russian study [ 118 ]. Another three studies providing information on plasma lyso-Gb1 as a prognostic biomarker were identified.…”

Section: Discussionmentioning

confidence: 99%

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Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Revel‐Vilk

Fuller

Zimran

2020

IJMS

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The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact clinical outcomes. This systematic literature review evaluated the value of glucosylsphingosine (lyso-Gb1), as the most reliable biomarker currently available for the diagnosis, prognosis, and disease/treatment monitoring of patients with GD. Literature searches were conducted using MEDLINE, Embase, PubMed, ScienceOpen, Science.gov, Biological Abstracts, and Sci-Hub to identify original research articles relevant to lyso-Gb1 and GD published before March 2019. Seventy-four articles met the inclusion criteria, encompassing 56 related to pathology and 21 related to clinical biomarkers. Evidence for lyso-Gb1 as a pathogenic mediator of GD was unequivocal, although its precise role requires further elucidation. Lyso-Gb1 was deemed a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Evidence supports lyso-Gb1 as a disease-monitoring biomarker for GD, and some evidence supports lyso-Gb1 as a prognostic biomarker, but further study is required. Lyso-Gb1 meets the criteria for a biomarker as it is easily accessible and reliably quantifiable in plasma and dried blood spots, enables the elucidation of GD molecular pathogenesis, is diagnostically valuable, and reflects therapeutic responses. Evidentiary standards appropriate for verifying inter-laboratory lyso-Gb1 concentrations in plasma and in other anatomical sites are needed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Revel‐Vilk

Fuller

Zimran

2020

IJMS

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“…Our present study highlights the reliability of using lyso-Gb1 measured in DBS for diagnosing all types of GD in a large cohort of subjects who underwent testing for different reasons. Lyso-Gb1 measurement on DBS was also used in a case-control study conducted in the Russian Federation and was found to be highly sensitive and specific for GD [23]. In an Australian study, DBS measurements of lyso-Gb1 were also used for the prenatal diagnosis of GD [24].…”

Section: Discussionmentioning

confidence: 99%

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

Dinur

Bauer

Beetz

et al. 2022

IJMS

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For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells combined with GBA1 mutation analysis. The use of dried blood spot (DBS) specimens offers many advantages, including easy collection, the need for a small amount of blood, and simpler transportation. However, DBS has limitations for measuring GCase activity. In this paper, we recount our cross-sectional study and publish seven years of experience using DBS samples and levels of the deacylated form of glucocerebroside, glucosylsphingosine (lyso-Gb1), for GD diagnosis. Of 444 screened subjects, 99 (22.3%) were diagnosed with GD at a median (range) age of 21 (1–78) years. Lyso-Gb levels for genetically confirmed GD patients vs. subjects negative to GD diagnosis were 252 (9–1340) ng/mL and 5.4 (1.5–16) ng/mL, respectively. Patients diagnosed with GD1 and mild GBA1 variants had lower median (range) lyso-Gb1, 194 (9–1050), compared to GD1 and severe GBA1 variants, 447 (38–1340) ng/mL, and neuronopathic GD, 325 (116–1270) ng/mL (p = 0.001). Subjects with heterozygous GBA1 variants (carrier) had higher lyso-Gb1 levels, 5.8 (2.5–15.3) ng/mL, compared to wild-type GBA1, 4.9 (1.5–16), ng/mL (p = 0.001). Lyso-Gb1 levels, median (range), were 5 (2.7–10.7) in heterozygous GBA1 carriers with Parkinson’s disease (PD), similar to lyso-Gb1 levels in subjects without PD. We call for a paradigm change for the diagnosis of GD based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in DBS. Lyso-Gb1 levels could not be used to differentiate between heterozygous GBA1 carriers and wild type.

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A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment

Zhong,

Li,

Fei

et al. 2024

Acta Neurol Belg

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Glucosylfingosine (Lyso-GL1) may be the primary biomarker for screening Gaucher disease in Russian patients

Cited by 3 publications

References 0 publications

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment

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