Wiśniewska Karolina, Wolski Jakub, Żabińska Magdalena, Szulc Aneta, Gaffke Lidia, Pierzynowska Karolina, Węgrzyn Grzegorz
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Psychiatry Ward, 7th Navy Hospital in Gdansk, Polanki 117, 80-305 Gdansk, Poland.
Diagnostics (Basel). 2024 Aug 9;14(16):1734. doi: 10.3390/diagnostics14161734.
Mucopolysaccharidoses (MPS) comprise a group of 12 metabolic disorders where defects in specific enzyme activities lead to the accumulation of glycosaminoglycans (GAGs) within lysosomes. This classification expands to 13 when considering MPS IIIE. This type of MPS, associated with pathogenic variants in the gene, has thus far been described only in the context of animal models. However, pathogenic variants in this gene also occur in humans, but are linked to a different disorder, Usher syndrome (USH) type IV, which is sparking increasing debate. This paper gathers, discusses, and summarizes arguments both for and against classifying dysfunctions of arylsulfatase G (due to pathogenic variants in the gene) in humans as another subtype of MPS, called MPS IIIE. Specific difficulties in diagnostics and the classification of some inherited metabolic diseases are also highlighted and discussed.
黏多糖贮积症（MPS）包括一组12种代谢紊乱疾病，特定酶活性的缺陷会导致溶酶体内糖胺聚糖（GAGs）的积累。若将MPS IIIE考虑在内，这一分类则扩展至13种。这种类型的MPS与该基因中的致病变异相关，迄今为止仅在动物模型的背景下被描述过。然而，该基因中的致病变异在人类中也会出现，但与另一种不同的疾病——IV型Usher综合征（USH）相关，这引发了越来越多的争论。本文收集、讨论并总结了支持和反对将人类中芳基硫酸酯酶G功能障碍（由于该基因中的致病变异）归类为MPS的另一种亚型（称为MPS IIIE）的论据。还强调并讨论了某些遗传性代谢疾病在诊断和分类方面的具体困难。
