biostudies-literatureFoerster LEUBundesministerium für Bildung und ForschungMedical Faculty of Martin-Luther-University Halle-WittenbergDeutsche ForschungsgemeinschaftEU Joint Programme-Neurogenerative Diseases networks Genfi-ProxBaden-Württemberg StiftungBoehring Ingelheim Ulm University BioCenter180https://www.ebi.ac.uk/biostudies/studies/S-EPMC11787199biostudies-literatureUnknown272(2)<h4>Background</h4>Neuromuscular diseases (NMDs) and mitochondriopathies are rare and heterogeneous disorders. Diagnosis is often difficult and delayed, partly due to the lack of reliable biomarkers. Chitotriosidase (CHIT1) as a candidate marker for lysosomal storage diseases is elevated in Niemann pick disease type C as a prototype of this group of diseases. Most recently, a relevant role of the lysosomal pathway in mitochondriopathies has been discussed, but markers of lysosomal involvement have not been investigated. Therefore, the aim of this study was to evaluate CHIT1 concentrations in a broad spectrum of NMDs and mitochondriopathies.<h4>Methods</h4>CHIT1 serum concentration of 151 patients with NMD or primary mitochondriopathy was determined by enzyme-linked immunosorbent assay, andJournal of neurologySerum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies.PMC11787199SFB1279D.5009D.383001ED2008AJCS24/02FTLDc 01GI1007AMOODMARKER 01EW2008Scholle LNaegel SHahn AVolk AEOtto MBarba LMensch ASchneider IStoltenburg-Didinger GStrube DKoelsch AKMayer TFoerster LKraya TDelank KSfalseSerum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies.<h4>Background</h4>Neuromuscular diseases (NMDs) and mitochondriopathies are rare and heterogeneous disorders. Diagnosis is often difficult and delayed, partly due to the lack of reliable biomarkers. Chitotriosidase (CHIT1) as a candidate marker for lysosomal storage diseases is elevated in Niemann pick disease type C as a prototype of this group of diseases. Most recently, a relevant role of the lysosomal pathway in mitochondriopathies has been discussed, but markers of lysosomal involvement have not been investigated. Therefore, the aim of this study was to evaluate CHIT1 concentrations in a broad spectrum of NMDs and mitochondriopathies.<h4>Methods</h4>CHIT1 serum concentration of 151 patients with NMD or primary mitochondriopathy was determined by enzyme-linked immunosorbent assay, and2025-01-01T00:00:00Z2025 Feb2025-04-04T08:50:52.167Z2025-04-04T08:50:52.167ZS-EPMC117871993989174110.1007/s00415-025-12916-5