Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data.

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Abstract

[Indexed for MEDLINE] 8. J Appl Genet. 2022 Sep;63(3):475-495. doi: 10.1007/s13353-022-00703-1. Epub 2022 May 13. Misdiagnosis in mucopolysaccharidoses. Wiśniewska K(1), Wolski J(2), Gaffke L(1), Cyske Z(1), Pierzynowska K(1), Węgrzyn G(3). Author information: (1)Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. (2)Psychiatry Ward, 7th Navy Hospital in Gdańsk, Polanki 117, 80-305, Gdańsk, Poland. (3)Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. grzegorz.wegrzyn@biol.ug.edu.pl. Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described to date only in mice) in which an enzymatic defect results in the accumulation of glycosaminoglycans (GAG) in the lysosomes of cells. First of all, as a result of GAG storage, the proper functioning of the lysosome is disturbed; then, the cells, and finally, tissue, organs, and the whole organism malfunctions are observed. Due to the rarity, heterogeneity, and multi-systemic and progressive nature of MPS, they present a major diagnostic challenge. Due to the wide variation in symptoms and their similarity to other diseases, MPS is often misdiagnosed, usually as neurological diseases (like autism spectrum disorders, psychomotor hyperactivity, and intellectual disability) or rheumatology and orthopedic disorders (like juvenile idiopathic arthritis, Perthes disease, rickets, and muscular dystrophy). In this review article, we present the problems associated with the possibility of misdiagnosing MPS, discuss what diseases they can be confused with, and suggest ways to reduce these problems in the future. © 2022. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences. DOI: 10.1007/s13353-022-00703-1