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

Lisette Leeuwen; Charlotte M A Lubout; Hessel P Nijenhuis; Linda C Meiners; Yvonne J Vos; Johanna C Herkert

doi:10.1111/cge.14182

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

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

Authors

Lisette Leeuwen¹, Charlotte M A Lubout², Hessel P Nijenhuis³, Linda C Meiners⁴, Yvonne J Vos¹, Johanna C Herkert¹

Affiliations

¹ Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
² Department of Pediatrics, Section of Metabolic Diseases, University of Groningen, Groningen, The Netherlands.
³ Department of Pediatrics, Center for Congenital Heart Diseases, University of Groningen, Groningen, The Netherlands.
⁴ Department of Radiology, University of Groningen, Groningen, The Netherlands.

PMID: 35791803
DOI: 10.1111/cge.14182

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.

Publication types

Case Reports
Letter

MeSH terms

Ataxia / genetics
Cardiomyopathies* / diagnosis
Cardiomyopathies* / genetics
Humans
Infant
Mitochondrial Diseases* / diagnosis
Mitochondrial Diseases* / genetics
Muscle Weakness
Mutation
Ubiquinone / deficiency

Substances

Ubiquinone

Supplementary concepts

Coenzyme Q10 Deficiency