Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature

ABSTRACT

Krabbe disease (KD) is classed as the lysosomal storage disease with mutations in the galactosylceramidase (GALC) gene, and commonly showed as autosomal recessive pattern with 30-kb deletion in infantile subtype. In this case, we report a 39-years adult-onset KD (AOKD) patient with multiple sclerosis-like symptoms and neuroimaging changes. She carries the heterozygous mutations in GALC included a missense mutation of c.1901T>C from her mother, and a splicing mutation of c.908+5G>A from her father. The splicing mutations in KD are reviewed and confirmed that c.908+5G>A is a novel splicing mutation in AOKD.

KEYWORDS:

• Krabbe disease
• galactosylceramidase
• splicing mutation
• demyelination
• GALC

Acknowledgements

We would like to thank the patient for his participation in this study.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Authors’ contributions

XPY and MMS analyzed the case and wrote the manuscript. SYL, WLJ, WL and MMS contributed to the diagnosis, treatment and data collection. XPY and MMS analyzed the data and provided guidance to the rest of the authors. All authors read and approved the final manuscript.

Consent for publication

The patient gave written consent for their personal or clinical details along with any identifying images to be published in this study. A copy of the written consent is available for review by the Editor of this journal.

Availability of data and materials

The data and images used in this case report are available from the corresponding author on reasonable request.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China (82171240), General Project of Basic and Applied Basic Research of Guangzhou Bureau of Science and Technology (2060206), Yang-cheng Scholar Project of Guangzhou Municipal Bureau of Education (202032790), General Project of Natural Science Foundation of Guangdong Province (2021A1515011043), and Guangzhou Medical Key Discipline Project (2021-2023).The funders had no role in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript.