{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T13:32:14Z","timestamp":1772112734877,"version":"3.50.1"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0245_s_999_w2aab3b7c34b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and which may be partially treated with exogenous CoQ10 supplementation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0245_s_998_w2aab3b7c34b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 9-month-old girl patient was referred to our clinic due to growth retardation, microcephaly and seizures. She was the third child of consanguineous parents (first-degree cousins) of Pakistani origin, born at 38 weeks gestation, weighing 2000 g after an uncomplicated pregnancy, and was hospitalized for 3 days due to respiratory distress. She had sustained clonic seizures when she was 4 months old. Physical examination showed microcephaly, truncal hypotonia and dysmorphic features. Metabolic tests were inconclusive. Abdominal ultrasonography revealed cystic appearance of the kidneys. Non-compaction of the left ventricle was detected in echocardiography. Cranial magnetic resonance imaging (MRI) showed hypoplasia of the cerebellar vermis and brain stem, corpus callosum agenesis, and cortical atrophy. A panel testing of 450 genes involved in inborn errors of metabolism (IEM) was performed that showed a novel frameshift c.384delG (Gly129Valfs*17) homozygous mutation in <jats:italic>COQ9<\/jats:italic>. A treatment of 5 mg\/kg\/day exogenous CoQ10 was started when she was 10 months old, and the dosage was increased to 50 mg\/kg\/day after the exact diagnosis. No objective neurological improvement could be observed after the adjustment of the drug dosage.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0245_s_997_w2aab3b7c34b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We report a case of CoQ10 deficiency due to a novel <jats:italic>COQ9<\/jats:italic> gene mutation that adds clinical data from a newly diagnosed patient. Our case also outlines the importance of genetic panels used for specific diseases including IEM.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0245","type":"journal-article","created":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T13:00:20Z","timestamp":1576674020000},"page":"165-170","source":"Crossref","is-referenced-by-count":22,"title":["A rare case of primary coenzyme Q10 deficiency due to <i>COQ9<\/i> mutation"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4989-221X","authenticated-orcid":false,"given":"Asburce","family":"Olgac","sequence":"first","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Metabolism , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00dclk\u00fchan","family":"\u00d6ztoprak","sequence":"additional","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Neurology , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Metabolism , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Metabolism , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Y\u00fcksel","sequence":"additional","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Neurology , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emine Bet\u00fcl","family":"Derinkuyu","sequence":"additional","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Radiology , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Ta\u015f\u00e7\u0131 Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"University of Health Sciences , Dr. Sami Ulus Maternity and Children\u2019s Research and Education Hospital, Department of Pediatric Radiology , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Intergen Genetic Diagnosis Center , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih S\u00fcheyl","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Gazi University Hospital , Department of Pediatric Metabolism and Nutrition , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,10]]},"reference":[{"key":"2021021317253414041_j_jpem-2019-0245_ref_001_w2aab3b7c34b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Crane FL, Navas P. The diversity of coenzyme Q function. Mol Asp Med 1997;18(Suppl):S1\u20136.","DOI":"10.1016\/S0098-2997(97)00016-2"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_002_w2aab3b7c34b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Turunen M, Olsson J, Dallner G. Metabolism and function of coenzyme Q. Biochim Biophys Acta 2004;1660:171\u201399.","DOI":"10.1016\/j.bbamem.2003.11.012"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_003_w2aab3b7c34b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, et al. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 2009;84:558\u201366.","DOI":"10.1016\/j.ajhg.2009.03.018"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_004_w2aab3b7c34b1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Smith A, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, et al. Family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. J Inherit Metab Dis 2018;41:719\u201329.","DOI":"10.1007\/s10545-017-0122-7"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_005_w2aab3b7c34b1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Merriman B, IonTorrent R&D Team, Rothberg JM. Progress in ion torrent semiconductor chip based sequencing. Electrophoresis 2012;33:3397\u2013417.","DOI":"10.1002\/elps.201200424"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_006_w2aab3b7c34b1b6b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Robinson JT, Thorvaldsd\u00f3ttir H, Winckler W, Guttman M, Lander ES, et al. Integrative genomics viewer. Nat Biotechnol 2011;29:24\u20136.","DOI":"10.1038\/nbt.1754"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_007_w2aab3b7c34b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Luna-S\u00e1nchez M, D\u00edaz-Casado E, Barca E, Tejada M\u00c1, Montilla-Garc\u00eda \u00c1, et al. The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. EMBO Mol Med 2015;7:670\u201387.","DOI":"10.15252\/emmm.201404632"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_008_w2aab3b7c34b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989;86:2379\u201382.","DOI":"10.1073\/pnas.86.7.2379"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_009_w2aab3b7c34b1b6b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997;48:1238\u201343.","DOI":"10.1212\/WNL.48.5.1238"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_010_w2aab3b7c34b1b6b1ab2b1c10Aa","doi-asserted-by":"crossref","unstructured":"Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, et al. Genetics of coenzyme q10 deficiency. Mol Syndromol 2014;5:156\u201362.","DOI":"10.1159\/000362826"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_011_w2aab3b7c34b1b6b1ab2b1c11Aa","doi-asserted-by":"crossref","unstructured":"Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, et al. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur J Hum Genet 2016;24:450\u20134.","DOI":"10.1038\/ejhg.2015.133"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_012_w2aab3b7c34b1b6b1ab2b1c12Aa","doi-asserted-by":"crossref","unstructured":"Multiple-System Atrophy Research C. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 2013;369:233\u201344.","DOI":"10.1056\/NEJMoa1212115"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_013_w2aab3b7c34b1b6b1ab2b1c13Aa","doi-asserted-by":"crossref","unstructured":"Rahman S, Hargreaves I, Clayton P, Heales S. Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 2001;139:456\u20138.","DOI":"10.1067\/mpd.2001.117575"},{"key":"2021021317253414041_j_jpem-2019-0245_ref_014_w2aab3b7c34b1b6b1ab2b1c14Aa","unstructured":"Molyneux SL, Young JM, Florkowski CM, Lever M, George PM. Coenzyme Q10: is there a clinical role and a case for measurement? Clin Biochem Rev 2008;29:71\u201382."},{"key":"2021021317253414041_j_jpem-2019-0245_ref_015_w2aab3b7c34b1b6b1ab2b1c15Aa","doi-asserted-by":"crossref","unstructured":"El-Hattab AW, Scaglia F. Mitochondrial cardiomyopathies. Front Cardiovasc Med 2016;3:25.","DOI":"10.3389\/fcvm.2016.00025"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/view\/journals\/jpem\/33\/1\/article-p165.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2019-0245\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2019-0245\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:46:14Z","timestamp":1619055974000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2019-0245\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,10]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,12,10]]},"published-print":{"date-parts":[[2020,1,28]]}},"alternative-id":["10.1515\/jpem-2019-0245"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2019-0245","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12,10]]}}}