Elevation of serum chitotriosidase is a biomarker of lysosomal diseases, particularly in Niemann-Pick disease. Recently, the lysosomal component of mitochondrial diseases has been discussed.
- Serum chitotriosidase (CHIT1) was measured in 117 people with neuromuscular diseases (90 hereditary, 27 inflammatory), 34 with mitochondrial diseases, 8 with Niemann-Pick type C and 38 controls.
- It is significantly elevated in mitochondrial diseases, particularly when the central nervous system is involved, as in MELAS.
This potential new biomarker would therefore complete the diagnostic arsenal for mitochondrial diseases.
