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

Lisette Leeuwen1, Charlotte M A Lubout2, Hessel P Nijenhuis3

  • 1Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Clinical Genetics
|July 6, 2022
PubMed

Insights

Primary Coenzyme Q10 deficiency-6 can present as cardiomyopathy in children. Genetic testing for this condition is crucial for diagnosing pediatric cardiomyopathy and guiding treatment.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Cardiology

Background:

  • Primary Coenzyme Q10 (CoQ10) deficiency is a group of inherited metabolic disorders.
  • These deficiencies can affect various organs, including the heart.

Observation:

  • A 19-month-old child presented with cardiomyopathy as the initial clinical manifestation.
  • This presentation was diagnosed as primary Coenzyme Q10 deficiency-6.

Findings:

  • This case highlights cardiomyopathy as a potential early symptom of primary CoQ10 deficiency-6.
  • The phenotypic spectrum of primary CoQ10 deficiency-6 is expanded by this case.

Implications:

  • Genetic testing for primary CoQ10 deficiency should be considered in pediatric patients with cardiomyopathy.
  • Early diagnosis through genetic testing can inform and guide therapeutic strategies for CoQ10 deficiency.

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