{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:03:43Z","timestamp":1789131823711,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T00:00:00Z","timestamp":1554336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Israel Ministry of Science, Technology and Space and Israel Science Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Respiratory chain disorders comprise a heterogeneous group of diseases that are the result of mutations in nuclear or mitochondrial genes. TMEM70 encodes a nuclear protein involved in the assembly of respiratory chain complex V. Although mutations in various genes can result in isolated complex V deficiency; <jats:italic>TMEM70<\/jats:italic> mutations represent the most common reported etiology. TMEM70 deficiency is known to cause a syndrome of neonatal mitochondrial encephalocardiomyopathy, accompanied by elevated lactate and hyperammonemia. Elevated citrulline has been reported previously in different inborn errors of metabolism, although uncommonly associated with TMEMT70 deficiency. We present a series of two siblings diagnosed with TMEM70 deficiency, and describe hypercitrullinemia during decompensation as a new finding in this condition. The cause of hyperammonemia in TMEM70 deficiency was previously assumed to be related to carbamoyl phosphate synthase 1 deficiency, but our finding of hypercitrullinemia rules out this possibility. We thus propose a different etiology for the hyperammonemia seen in these patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.61138","type":"journal-article","created":{"date-parts":[[2019,4,5]],"date-time":"2019-04-05T18:57:50Z","timestamp":1554490670000},"page":"1293-1298","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation"],"prefix":"10.1002","volume":"179","author":[{"given":"Orna","family":"Staretz\u2010Chacham","sequence":"first","affiliation":[{"name":"Metabolic Clinic, Pediatric Division Soroka University Medical Center, Ben Gurion University  Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ohad","family":"Wormser","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev  Beer Sheva Israel"},{"name":"Shraga Segal Department of Microbiology, Immunology and Genetics Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Manor","sequence":"additional","affiliation":[{"name":"Shraga Segal Department of Microbiology, Immunology and Genetics Ben Gurion University of the Negev  Beer Sheva Israel"},{"name":"Genetics Institute Soroka University Medical Center, Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1430-1296","authenticated-orcid":false,"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev  Beer Sheva Israel"},{"name":"Shraga Segal Department of 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