Liquid calibrators for ABG, ASM, GAA, GALC, GLA, and IDUA at 7 different P/IS ratios (0, 0.
Alternative assays replicated in our laboratory were another MS/MS multiplex method for ABG, ASM, GAA, GALC, and GLA analysis (10), a fluorometric method for IDUA analysis (14), and an LC-MS/MS method for [C.
Galactosylsphingosine (psychosine) is a neurotoxic sphingolipid degraded by GALC.
Residual GALC activity was measured in triplicate aliquots of each sample (20 [micro]g protein) by incubation with N-lissamine rhodaminyl-6-aminohexanoylgalactosyl ceramide with results expressed as mean nanomoles per hour per milligram of protein from 3 individual samples per group.
30Kb del) deletion of the GALC gene causing Krabbe disease (7).
DNA for BigDye terminator (Applied BioSystems) cycle sequencing of the complete GALC gene (Fig.
A small amount of substrate-to-product conversion due to in source fragmentation was seen for ABG, GALC, GLA, and GAA.
Insource fragmentation of substrate to product was seen in the case of ABG, GALC, GAL4S, and GAL6S, and to a lower extent in GLA and GAA.
enzyme activities for 176 newborns were measured in parallel by the New York screening laboratory to evaluate the Turboflow assay (Table 4).
Activities of acid [beta]-D-glucosidase, acid sphingomyelinase, GAA, and [alpha]-galactosidase A were also distinguished from the activities of heterozygote carriers; no GALC
heterozygotes were enrolled in the study.
Aliquots (25 [micro]L for ASM, GALC
, ABG, and GAA; 12.
assay uses commercially available reagents and is based on the reaction shown in Fig.