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Article

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

1
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3T2N2, Canada
2
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB R3T2N2, Canada
3
Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada
4
Department of Ophthalmology, University of Manitoba, Winnipeg, MB R3T2N2, Canada
5
Department of Medicine, University of Manitoba, Winnipeg, MB R3T2N2, Canada
6
Manitoba Association of Optometrists, Winnipeg, MB R3H0Y4, Canada
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(2), 69; https://doi.org/10.3390/diagnostics10020069
Received: 19 December 2019 / Revised: 17 January 2020 / Accepted: 18 January 2020 / Published: 26 January 2020
(This article belongs to the Section Pathology and Molecular Diagnostics)
Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who responded well to the combination of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Here we report progressive bilateral vitreous and preretinal deposits with declining visual acuity requiring bilateral vitrectomies in one of these siblings. These ocular manifestations had progressed despite combined ERT and SRT with improvement in visual acuity after vitrectomies. Vitrectomy fluid analysis performed for the first time by ultra-performance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS) identified a high concentration of glucosylceramide (GluCer) in the patient (262.842 nM) compared to a sample (0.428 nM from a patient without a lysosomal storage or known hereditary metabolic disorder). The GluCer detected in our patient was resolved into 12 different isoforms including two methylated ones. No evidence of galactosylceramide (GalCer) was detected. The development of these intraocular manifestations and their characterization by UPLC-MS/MS indicate a need for ongoing ophthalmologic evaluation of all GD patients and for new therapies that can cross the blood–retinal and blood–brain barriers for patients with GD and other neuropathic lysosomal storage disorders. View Full-Text
Keywords: Gaucher; LSD; glucosylceramide; UPLC-MS/MS; vitreous Gaucher; LSD; glucosylceramide; UPLC-MS/MS; vitreous
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MDPI and ACS Style

Mhanni, A.; Boutin, M.; Stockl, F.; Johnston, J.; Barnes, J.; Duerksen, D.; Zimmer, L.; Auray-Blais, C.; Rockman-Greenberg, C. Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment. Diagnostics 2020, 10, 69. https://doi.org/10.3390/diagnostics10020069

AMA Style

Mhanni A, Boutin M, Stockl F, Johnston J, Barnes J, Duerksen D, Zimmer L, Auray-Blais C, Rockman-Greenberg C. Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment. Diagnostics. 2020; 10(2):69. https://doi.org/10.3390/diagnostics10020069

Chicago/Turabian Style

Mhanni, Aizeddin, Michel Boutin, Frank Stockl, Janine Johnston, Jeff Barnes, Donald Duerksen, Leanne Zimmer, Christiane Auray-Blais, and Cheryl Rockman-Greenberg. 2020. "Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment" Diagnostics 10, no. 2: 69. https://doi.org/10.3390/diagnostics10020069

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