Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

• Published in: Molecular genetics and metabolism Vol. 123; no. 2; pp. 76 - 84
• Main Authors: Voorink-Moret, M., Goorden, S.M.I., van Kuilenburg, A.B.P., Wijburg, F.A., Ghauharali-van der Vlugt, J.M.M., Beers-Stet, F.S., Zoetekouw, A., Kulik, W., Hollak, C.E.M., Vaz, F.M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2018
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers - metabolism; Case-Control Studies; Child; Child, Preschool; Chitotriosidase; Cohort Studies; Fabry Disease - diagnosis; Fabry Disease - metabolism; Female; Gaucher Disease - diagnosis; Gaucher Disease - metabolism; Humans; Infant; Infant, Newborn; Lipid storage disorders; Lipidoses; Lysosphingolipids; Male; Middle Aged; Niemann-Pick Diseases - diagnosis; Niemann-Pick Diseases - metabolism; Oxysterols; Prognosis; Sphingolipidoses; Young Adult; Sphingolipidoses; Chitotriosidase; Lipidoses; Lipid storage disorders; Lysosphingolipids; Oxysterols

In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which,...