Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy.

摘要: Abstract Impaired sulfatide catabolism is the primary biochemical insult in patients with inherited neurodegenerative disease, metachromatic leukodystrophy (MLD), and elevation body fluids useful diagnostic setting. Here we used mass spectrometry to quantify fourteen species of sulfatide, addition deacetylated derivative, lyso-sulfatide, using high pressure liquid chromatography-electrospray ionisation-tandem both positive negative ion mode. A single phase extraction 0.01 mL MLD plasma identified all 14 mode but none Interrogation seven major hydroxylated molecular species, as well C18 isoform most informative for MLD. The produced a linear response was below limit quantification ( −1 ) control concentrations ranging from 12 196 pmol mL . Serial samples an patient post-therapeutic bone marrow transplant proved similar non-disease controls quantification, did three individuals arylsulfatase pseudodeficiency – population variant which appears deficient upon enzymatic assay, without manifestation disease. These findings emphasise utility diagnosis monitoring patients. Extension this approach newborn screening card correctly at birth elevated levels almost double that present his unaffected sibling, suggesting methodology may have applicability screening.