{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T13:47:40Z","timestamp":1790344060910,"version":"4.1.0"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0490_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the <jats:italic>COQ4<\/jats:italic> 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0490_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 3-month-and-22-day-old male was admitted to our\u00a0outpatient clinic due to poor feeding and restlessness. He\u00a0was 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&gt;G (p.Phe146Cys), in the <jats:italic>COQ4<\/jats:italic> gene. Genetic tests were also conducted on both mother and father, and it revealed heterozygous variant, 0.437T&gt;G (p.Phe146Cys), in the <jats:italic>COQ4<\/jats:italic> gene. As a result of these findings, the patient was diagnosed with neonatal encephalomyopathy\u2013cardiomyopathy\u2013respiratory 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&gt;T (p.A153V), in the <jats:italic>COQ4<\/jats:italic> gene. The patient was diagnosed with Primary Coenzyme Q10 Deficiency-7.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0490_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0490","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T11:21:26Z","timestamp":1707909686000},"page":"260-270","source":"Crossref","is-referenced-by-count":2,"title":["Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4904-6815","authenticated-orcid":false,"given":"G\u00fclreyhan","family":"Sonu\u00e7 Kartal","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0637-417X","authenticated-orcid":false,"given":"Merve","family":"Ko\u00e7 Yeked\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7238-2894","authenticated-orcid":false,"given":"Engin","family":"K\u00f6se","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5880-1113","authenticated-orcid":false,"given":"Fatma Tuba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,2,2]]},"reference":[{"key":"2024032911180838987_j_jpem-2023-0490_ref_001","doi-asserted-by":"crossref","unstructured":"Xie, J, Jiang, J, Guo, Q. Primary coenzyme Q10 deficiency-7 and pathogenic COQ4 variants: clinical presentation, biochemical analyses, and treatment. Front Genet 2021;12:776807. https:\/\/doi.org\/10.3389\/fgene.2021.776807.","DOI":"10.3389\/fgene.2021.776807"},{"key":"2024032911180838987_j_jpem-2023-0490_ref_002","doi-asserted-by":"crossref","unstructured":"Desbats, MA, Lunardi, G, Doimo, M, Trevisson, E, Salviati, L. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J\u00a0Inherit Metab Dis 2015;38:145\u201356. https:\/\/doi.org\/10.1007\/s10545-014-9749-9.","DOI":"10.1007\/s10545-014-9749-9"},{"key":"2024032911180838987_j_jpem-2023-0490_ref_003","doi-asserted-by":"crossref","unstructured":"Acosta, MJ, Vazquez Fonseca, L, Desbats, MA, Cerqua, C, Zordan, R, Trevisson, E, et al.. Coenzyme Q biosynthesis in health and disease. 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