Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

Clinica Chimica Acta; International Journal of Clinical Chemistry
Milena RomanelloA Dardis

Abstract

Niemann-Pick C disease (NPCD) is a rare autosomal recessive neurovisceral disorder with a heterogeneous clinical presentation. Cholestan-3β,5α,6β-triol and 7-ketocholesterol have been proposed as biomarkers for the screening of NPCD. In this work, we assessed oxysterols levels in a cohort of Italian patients affected by NPCD and analyzed the obtained results in the context of the clinical, biochemical and molecular data. In addition, a group of patients affected by Niemann-Pick B disease (NPBD) were also analyzed. NPC patients presented levels of both oxysterols way above the cut off value, except for 5 siblings presenting the variant biochemical phenotype who displayed levels of 3β,5α,6β-triol below or just above the cut-off value; 2 of them presented also normal levels of 7-KC. Both oxysterols were extremely high in a patient presenting the neonatal systemic lethal phenotype. All NPB patients showed increased oxysterols levels. In conclusion, the reported LC-MS/MS assay provides a robust non-invasive screening tool for NPCD. However, false negative results can be obtained in patients expressing the variant biochemical phenotype. These data strengthen the concept that the results should always be interpreted in the context of ...Continue Reading

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Citations

Apr 8, 2018·Orphanet Journal of Rare Diseases·Tarekegn GeberhiwotUNKNOWN International Niemann-Pick Disease Registry (INPDR)
Feb 13, 2018·Neurology. Clinical Practice·Marc C PattersonThorsten Marquardt
Dec 12, 2017·Current Opinion in Clinical Nutrition and Metabolic Care·Yuqin Wang, William J Griffiths
Mar 21, 2018·Journal of Inherited Metabolic Disease·Monique PiraudRoseline Froissart
Sep 10, 2019·JIMD Reports·Alberto BenussiBarbara Borroni
Feb 24, 2020·Molecular Genetics and Metabolism·Eline C B EskesCarla E M Hollak
Apr 23, 2019·Free Radical Biology & Medicine·William J GriffithsYuqin Wang
Apr 27, 2021·The Journal of Steroid Biochemistry and Molecular Biology·Wassim GuidaraFatma Ayadi

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