Krabbe disease (KD) is a rare disease caused by the deficiency of 
β-galactocerebrosidase. This study investigated 22 unrelated Chinese patients, 
including their clinical presentations, plasma psychosine levels and 
β-galactocerebrosidase gene mutations. We found the late-onset form of KD 
present in 82% of the patients in our study, which was more prevalent than in 
patients from other populations. Plasma psychosine levels were elevated in KD, 
which were correlated with the severity of clinical presentations. Sanger 
sequencing identified 8 novel mutations, including 7 missense mutations, 
p.H253Y, p.S259L, p.P318L, p.F350V, p.T428A, p.L530P, p.G586D, and 1 splicing 
mutation, c.1251+1G>A. Quantitative real-time polymerase chain reaction (PCR) 
and multiplex ligation-dependent probe amplification identified a novel exon 12 
and 14 deletion, separately. Next generation sequencing, applied at the final 
step, revealed 2 missense mutant alleles missed using Sanger sequencing. The 
most common mutation in Chinese population is p.P154H, which accounts for 20.5% 
of alleles. Consistent with the higher prevalence of the late-onset form of KD, 
missense mutations predominated in our study, different with the common mutation 
types in Europe and Japan. This work was the first large-scale study of Chinese 
KD patients describing their clinical, biochemical and genetic characteristics, 
which furthered our understanding of this classical neurological lysosomal 
storage disease.