AI Article Synopsis
- Coenzyme Q10 (CoQ10) deficiency can present in different ways, ranging from muscle issues to affecting multiple organ systems.
- A case of a four-year-old girl showed CoQ10 deficiency along with immune dysfunction, evidenced by failure to thrive, frequent infections, and developmental delays.
- Treatment with CoQ10 and immunoglobulin replacement led to improvements in her immune function, highlighting the need to consider immune issues in CoQ10 deficiency cases.
Article Abstract
Coenzyme Q10 (CoQ10) deficiency can manifest diversely, from isolated myopathy to multisystem involvement. Immune dysregulation has not been reported as a feature of the disease. We report a four-year old girl with failure to thrive, recurrent infections, developmental delay with hypotonia, and CoQ10 deficiency with impaired immune function, which improved after CoQ10 and immunoglobulin replacement therapy. Immune dysfunction in CoQ10 deficiency should be considered and treated appropriately.
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| http://dx.doi.org/10.1016/j.clim.2014.09.010 | DOI Listing |
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