{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T21:36:48Z","timestamp":1772660208398,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in transport and Golgi organization 2 homolog (<jats:italic>TANGO2<\/jats:italic>) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. Herein, we report a case of a one\u2010and\u2010a\u2010half\u2010year\u2010old Japanese girl, born to nonconsanguineous parents, who presented with metabolic crisis characterized by hypoglycemia with hypoketonemia, rhabdomyolysis, lactic acidosis, and prolonged corrected QT interval (QTc) at the age of 6\u00a0months. Acylcarnitine analysis during the episode of crisis showed prominent elevation of C14:1, suggesting very\u2010long\u2010chain acyl\u2010CoA dehydrogenase (VLCAD) deficiency. In addition, worsening rhabdomyolysis was observed after intravenous administration of L\u2010carnitine. VLCAD deficiency was initially suspected; however, the enzyme activity in lymphocytes was only mildly decreased at the gene carrier level, and no mutation in the VLCAD gene (<jats:italic>ADADVL<\/jats:italic>) was detected. Subsequently, acylcarnitine analysis was nonspecific at 17\u2010h fasting and almost normal during the stable phase. Eventually, a trio whole\u2010exome sequencing revealed a compound heterozygous variant of two novel variants in the <jats:italic>TANGO2<\/jats:italic> gene, a missense variant, and a deletion of exon 7. This is the first case of TANGO2 deficiency in Asians. Our case suggests that elevated C14:1 may be seen in severe metabolic crises and that the use of L\u2010carnitine should be avoided during metabolic crises.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12275","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T13:26:00Z","timestamp":1666877160000},"page":"3-9","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Transport and Golgi organization 2 deficiency with a prominent elevation of <scp>C14<\/scp>:1 during a metabolic crisis: A case report"],"prefix":"10.1002","volume":"64","author":[{"given":"Katsuyuki","family":"Yokoi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Fujita Health University School of Medicine  Toyoake Japan"},{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University  Toyoake 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