Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review

Gülreyhan Sonuç Kartal; Merve Koç Yekedüz; Engin Köse; Fatma Tuba Eminoğlu

doi:10.1515/jpem-2023-0490

Article

Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review

Gülreyhan Sonuç Kartal , Merve Koç Yekedüz , Engin Köse and Fatma Tuba Eminoğlu

Published/Copyright: February 2, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 3

Abstract

Objectives

Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the COQ4 gene. Common clinical findings include hypotonia, seizures, respiratory distress, and cardiomyopathy. In this report, we present two patients diagnosed with Primary Coenzyme Q10 Deficiency-7 along with a review of previously published cases, with the aim being to provide a better understanding of the clinical and laboratory manifestations of the disease.

Case presentation

A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness. He was born following an uneventful pregnancy to a nonconsanguineous marriage. A physical examination revealed hypotonia, a dolichocephaly, periorbital edema, and long eyelashes. Blood tests revealed metabolic acidosis and elevated serum lactate levels, while the genetic analysis revealed a variant previously reported as pathogenic, c.437T>G (p.Phe146Cys), in the COQ4 gene. Genetic tests were also conducted on both mother and father, and it revealed heterozygous variant, 0.437T>G (p.Phe146Cys), in the COQ4 gene. As a result of these findings, the patient was diagnosed with neonatal encephalomyopathy–cardiomyopathy–respiratory distress syndrome (Primary Coenzyme Q10 Deficiency-7). A 1-year-old male was admitted to our clinic with complaints of hypotonia, seizures, and feeding difficulties. He was born following an uneventful pregnancy to a nonconsanguineous marriage. On his first day of life, he was admitted to the neonatal intensive care unit due to poor feeding and hypotonia. A physical examination revealed microcephaly, a high palate, poor feeding, weak crying, hypotonia, bilateral horizontal nystagmus, and inability to maintain eye contact. Laboratory findings were within normal limits, while a whole exome sequencing analysis revealed a homozygous variant previously reported as pathogenic, c.458C>T (p.A153V), in the COQ4 gene. The patient was diagnosed with Primary Coenzyme Q10 Deficiency-7.

Conclusions

Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.

Keywords: coenzyme Q4 deficiency; Primary Coenzyme Q10 Deficiency-7; mitochondrial disorders; neonatal encephalomyopathy–cardiomyopathy–respiratory distress syndrome

Corresponding author: Engin Köse, Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Children Hospital, Balkiraz/Mamak Street, Ankara, Türkiye, Phone: +90 505 271 96 19, E-mail: enginkose85@hotmail.com

Acknowledgments

We thank the parents of the patients for their permission.

Research ethics: The local Institutional Review Board deemed the study exempt from review.
Informed consent: Informed consent was obtained from all individuals included in this study.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2023-10-31

Accepted: 2024-01-18

Published Online: 2024-02-02

Published in Print: 2024-03-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0490

Keywords for this article

coenzyme Q4 deficiency; Primary Coenzyme Q10 Deficiency-7; mitochondrial disorders; neonatal encephalomyopathy–cardiomyopathy–respiratory distress syndrome