Lysosomal Storage Disorders Screen Interpretive Algorithm

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Lysosomal Storage Disorders Screen Interpretive Algorithm LSDS / Lysosomal Storage Disorders Screen, Random, Urine Testing includes: ■ Mucopolysaccharides (MPS): – Dermatan sulfate (DS) – Heparan sulfate (HS) – Keratan sulfate (KS) – Chondroitin 6-sulfate (CS) ■ Oligosaccharides (OLIGO) ■ Ceramide trihexosides (CT) ■ Sulfatides (S) ■ OLIGO: Characteristic profile ■ OLIGO: MLII/III profile ■ S: Abnormal ■ CT and S: Abnormal ■ CT: Abnormal ■ MPS and S: Abnormal ■ MPS: Abnormal ■ MPS: Abnormal ■ CT, MPS and S: Normal ■ CT, MPS and S: ■ CT, MPS and OLIGO: ■ MPS and OLIGO: ■ MPS, OLIGO and S: ■ CT and OLIGO: Normal ■ OLIGO: Characteristic profile ■ CT and S: Normal Normal/abnormal Normal Normal Normal ■ CT and S: Normal ■ OLIGO: Normal/ abnormal One of the following: Mucolipidosis II/III Metachromatic Prosaposin/SaposinB Fabry Disease Multiple sulfatase ■ α-Mannosidosis leukodystrophy (MLD) deficiency deficiency (MSD) ■ β-Mannosidosis ■ Pompe disease ■ Sandhoff disease ■ Schindler disease ■ Sialidosis ■ Elevated KS ■ Elevated KS ■ Elevated KS ■ Elevated KS ■ Elevated KS and CS ■ Galactosialidosis* ■ OLIGO: MPS ■ OLIGO: GM1 ■ OLIGO: α-Fucosidosis ■ OLIGO: Galactosialidosis ■ OLIGO: MPS IVA profile ■ α-Fucosidosis* IVB profile gangliosidosis profile profile profile ■ Mucolipidosis II/III* ■ GM1 gangliosidosis* ■ Morquio A & B* ■ NGYL1 deficiency MPS IVB GM1 gangliosidosis -Fucosidosis Galactosialidosis MPS IVA ■ MOGS-CDG (Congenital α Disorder of Glycosylation-IIb) ■ Elevated DS and HS ■ Elevated DS ■ Elevated HS ■ Elevated DS, HS, CS ■ OLIGO: Profile may ■ OLIGO: Profile may suggest MPS suggest MPS *These conditions may also have elevated MPS Interpretation of all results will include recommendations MPS I or MPS II MPS VI MPS III A, B, C, D MPS VII for confirmatory testing as needed. For confirmatory testing: See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 for MPS I, II, III, IV, VI and VII, GM1 gangliosidosis, α-fucosidosis and galactosialidosis See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 for all other disorders © Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2020.

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Neuroradiologic Findings in Fucosidosis, a Rare Lysosomal Storage Disease
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Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders Minzhi Xing, Emory University E I Parker, Emory University A Moreno-De-Luca, Geisinger Health System Elie Harmouche, Emory University Michael Terk, Emory University Journal Title: British Journal of Radiology Volume: Volume 87, Number 1033 Publisher: British Institute of Radiology | 2014-01-01, Pages 20130467-20130467 Type of Work: Article | Final Publisher PDF Publisher DOI: 10.1259/bjr.20130467 Permanent URL: https://pid.emory.edu/ark:/25593/pr2p5 Final published version: http://dx.doi.org/10.1259/bjr.20130467 Copyright information: © 2014 The Authors. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits distribution of derivative works, making multiple copies, distribution, public display, and publicly performance, provided the original work is properly cited. This license requires credit be given to copyright holder and/or author, copyright and license notices be kept intact. Accessed September 24, 2021 3:09 PM EDT BJR © 2014 The Authors. Published by the British Institute of Radiology Received: Revised: Accepted: doi: 10.1259/bjr.20130467 28 July 2013 29 October 2013 8 November 2013 Cite this article as: Xing M, Parker EI, Moreno-De-Luca A, Harmouche E, Terk MR. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol 2014;87:20130467. REVIEW ARTICLE Radiological
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