Arylsulfatase B Enzyme Analysis

Mucopolysaccharidosis type VI is a disease associated with enlarged, inflamed, and scarred tissues and organs. The age of onset is typically in early childhood and symptoms usually include a large head, hydrocephalus, distinctive facial features, a large tongue, heart valve abnormalities, hepatosplenomegaly, umbilical or inguinal hernias, short stature, contractures, spinal stenosis, weakness of the hands and fingers, clouded corneas, sleep apnea, hearing loss, and recurrent ear infections. Life expectancy is reduced, and in severe forms death occurs in late childhood. The incidence of mucopolysaccharidosis type VI is estimated to be ~1 in 250,000.

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.