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. Author manuscript; available in PMC: 2018 Jul 1.
Published in final edited form as: Mol Genet Metab. 2017 May 22;121(3):271–278. doi: 10.1016/j.ymgme.2017.05.015

Fig. 2.

Fig. 2

Psychosine concentrations in newborn DBS specimens. The blue shaded area is the estimated 8 standard deviation range (mean ± 4 SDs), which should include >99.9% of the unaffected population. This estimate is based on the distribution of the 75 unaffected newborns (gray). The mean psychosine concentration of one of the carrier DBS specimens (green) was similar to that of the unaffected newborns but was elevated in the other specimen. The newborn screen-positive (NBS+) infants considered to be at moderate to high risk based on GALC enzyme activity levels and mutational analysis are shown in gold. Two of these infants had psychosine levels within the range of the unaffected newborns, whereas seven infants showed elevated levels. Psychosine levels were elevated in all specimens from patients with EIKD (red), LIKD (blue), and juvenile-onset (orange) KD. The patient with juvenile-onset KD had a psychosine concentration lower than that of three samples in the NBS+ group.