Tripeptidyl peptidase 1 Enzyme Analysis

CLN2 disease is part of a group of disorders called neuronal ceroid lipofuscinoses (NCLs). CLN2 disease is characterized by impaired motor and mental development which usually present in early childhood. Symptoms include, but are not limited to, epilepsy, ataxia, and vision impairment. It is a progressive disease and affected children can lose previously acquired skills. They often need the help of a wheelchair to get around and do not survive past their teens. There are milder cases where symptoms develop in later childhood. In these cases, affected individuals can list until adulthood. CLN2 disease is estimated to affect 9 in 100,000 births in the Newfoundland province of Canada. The incidence outside this population is unknown.

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.