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Case Reports
. 2022 Oct;102(4):350-351.
doi: 10.1111/cge.14182. Epub 2022 Jul 6.

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

Lisette Leeuwen  1 , Charlotte M A Lubout  2 , Hessel P Nijenhuis  3 , Linda C Meiners  4 , Yvonne J Vos  1 , Johanna C Herkert  1
Affiliations
Case Reports

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

Lisette Leeuwen et al. Clin Genet. 2022 Oct.

Abstract

We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 deficiency should be considered in patients with pediatric-onset cardiomyopathy as it can guide treatment options.

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References

REFERENCES

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    1. Stefely JA, Pagliarini DJ. Biochemistry of mitochondrial coenzyme Q biosynthesis. Trends Biochem Sci. 2017;42:824-843.
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    1. Freyer C, Stranneheim H, Naess K, et al. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J Med Genet. 2015;52:779-783.

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