Background: Krabbe disease is an autosomal recessive leukodystrophy caused by the deficiency of the galactocerebrosidase (GALC). GALC deficiency results in abnormal accumulation of galactosylsphingosine (psychosine) which cause demyelination of the central and peripheral nervous systems. Objective: To identify clinical manifestation and GALC mutations in Chinese Krabbe disease patients. Methods: We used targeted next-generation sequencing to identify GALC mutations in Chinese patients with white matter disease. Results: We confirmed 7 Chinese patients having GALC gene mutations diagnosed as Krabbe disease, the largest subject number of Chinese patients to date, and found 14 mutations. Of these mutations, six were novel, including four missense mutations (c.1048T>G, c.1585A>C, c.461C>A, c.61G>C), one nonsense mutation (c.129C>G) and one splicing mutation (c.622-1G>A). 58% (4/7) patients had late infantile phenotype. One late infantile patient had a nonsense mutation c.129C>G and a missense mutation c.1048T>G had death at age 3. years 5. months. Six patients are survive until follow up after 1. years 10. months to 3. years 9. months of the disease. Conclusion: Targeted next-generation sequencing may help diagnosis atypical symptoms Krabbe disease. Chinese Krabbe disease patients have their own genotype and phenotype. © 2017 The Japanese Society of Child Neurology.