Except for Pompe disease, biomarkers for the other LSDs included in this assay can be measured in DBS, specifically glycosaminoglycans for MPS I, psychosine for Krabbe disease, glucosylsphingosine for Gaucher disease, globotriaosylsphingosine for Fabry disease, and sphingomyelin for NPA/B disease (20-23).
Measurement of psychosine in dried blood spots-a possible improvement to newborn screening programs for Krabbe disease.
It is an autosomal recessive sphingolipidosis caused by deficient activity of the lysosomal enzyme galactosylceramide beta-galactosidase (GALC) which degrades galactosylceramide, a main component of myelin, and other terminal beta-galactose-containing sphingolipids, including psychosine
The first sentence of a paragraph that begins on page 710 should have read, "These results suggest that measuring circulating blood levels of psychosine in patients with KD may serve as endpoints for correlation with their neurologic phenotype.
Detection of the neurotoxin psychosine in samples of peripheral blood: application in diagnostics and follow-up of krabbe disease.
The toxic fat psychosine also accumulates in the central nervous system, and physical symptoms similar to those of Krabbe's disease develop in affected mice, which die about five weeks after birth.
Results also show that marrow transplants -- performed when the mice are 9 to 12 days old -- increase enzyme levels in the central nervous system, result in much lower levels of psychosine and are followed by a disappearance of globoid cells.
The authors did not provide data to show if their LC-MS/MS method could resolve glucosylsphingosine from psychosine (galactosylsphingosine).
The psychosine concentrations in DBS from these 4 babies were all increased (23-73 ng/mL) compared to those in random newborns (approximately 2.
Predictably, affected individuals show progressive accumulation of psychosine in central and peripheral nerve tissue.
We examined whether psychosine was present in detectable quantities in the blood of the twitcher mouse, a natural occurring murine model of KD.
Sphingosylphosphoryl choline (~85%), psychosine
, Triton X-100, sodium taurocholate, and oleic acid were purchased from Sigma.