Glucosylsphingosine levels in patients carrying frequent Gaucher mutations.

Comparison of the frequency and Glucosylsphingosine values (median and interquartile range (IQR)) in the mutation N370S predisposing for a benign phenotype and the mutation L444P highly likely to cause severe GD. Notably, homozygous mutations are associated with higher Glucosylsphingosine values in both mutations. In the mutation L444P, which is inherent in many severely affected GD patients, Glucosylsphingosine is higher than in patients with the mutation N370S. This indicates the correlation of Glucosylsphingosine with the burden of the disease as homozygous individuals are more severely affected than compound heterozygous ones and patients with L444P more than those with N370S. Of note, patients compound heterozygous for N370S/L444P were included in both compound heterozygous cohorts.