{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T17:31:05Z","timestamp":1786728665879,"version":"build-2736575974"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    MLASA syndrome is a rare mitochondrial disorder that presents in three distinct genetic forms: MLASA1, MLASA2, and MLASA3; MLASA1 is the most common form. The clinical features include mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. Although presence of other features is not uncommon, its association with long QT (LQT) syndrome has not been described before. In addition, while MLASA syndrome has been reported from several countries worldwide, we present the first patient with MLASA1 syndrome from the Kingdom of Saudi Arabia in this case report. The 10-year-old girl with history of poor health since infancy and recurrent hospital admissions for infections and blood transfusions was referred to our hospital for allogeneic bone marrow transplantation. Early in her childhood, she was diagnosed with symptomatic LQT syndrome and, at a later age, with sideroblastic anemia. Whole-exome sequencing (WES) revealed homozygous mutations in the\n                    <jats:italic toggle=\"yes\">PUS1<\/jats:italic>\n                    gene and heterozygous mutations in the\n                    <jats:italic toggle=\"yes\">KCNQ1<\/jats:italic>\n                    gene. The WES test of the parents was negative, and there was no family history suggestive of a similar diagnosis. Therefore, our patient has most probably developed the syndrome as a result of a sporadic\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    mutation; however, the possibility of sex cell germline mosaicism cannot be excluded. Heterozygous\n                    <jats:italic toggle=\"yes\">KCNQ1<\/jats:italic>\n                    gene mutation is associated with the development of type 1 LQT syndrome. Detection of the MLASA syndrome and proper intervention at an early age are crucial for successful management. Associated LQT syndrome should always be anticipated. Despite the presence of a fully tissue-matched sibling, the parents of our patient declined the option of allogeneic bone marrow transplantation due to potential severe cardiac and liver complications.\n                  <\/jats:p>","DOI":"10.4103\/sjmms.sjmms_716_25","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T15:00:49Z","timestamp":1768834849000},"page":"96-99","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child"],"prefix":"10.4103","volume":"14","author":[{"given":"Adil Abdelhamed","family":"Abbas","sequence":"first","affiliation":[{"name":"Department of Pediatrics, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology, King Abdullah Specialized Children\u2019s Hospital, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology, Section of Blood and Marrow Transplant and Cellular Therapy, King Abdullah Specialized Children\u2019s Hospital, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dania Adel","family":"Monagel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology, King Abdullah Specialized Children\u2019s Hospital, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology, Section of Blood and Marrow Transplant and Cellular Therapy, King Abdullah Specialized Children\u2019s Hospital, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami Jowaiber","family":"Althubaiti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology, King Abdullah Specialized Children\u2019s Hospital, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology, Section of Blood and Marrow Transplant and Cellular Therapy, King Abdullah Specialized Children\u2019s Hospital, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"R1-20260120","doi-asserted-by":"crossref","first-page":"16080","DOI":"10.1038\/nrdp.2016.80","article-title":"Mitochondrial diseases","volume":"2","author":"Gorman","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"R2-20260120","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1016\/j.apsb.2022.10.008","article-title":"Mitochondrial transplantation as a promising therapy for mitochondrial diseases","volume":"13","author":"Zhang","year":"2023","journal-title":"Acta Pharm Sin B"},{"key":"R3-20260120","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.1320550325","article-title":"Myopathy, lactic acidosis, and sideroblastic anemia:A new syndrome","volume":"55","author":"Inbal","year":"1995","journal-title":"Am J Med Genet"},{"key":"R4-20260120","doi-asserted-by":"crossref","first-page":"e564","DOI":"10.3324\/haematol.2018.194464","article-title":"Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene","volume":"103","author":"Smith","year":"2018","journal-title":"Haematologica"},{"key":"R5-20260120","doi-asserted-by":"crossref","first-page":"a004457","DOI":"10.1101\/mcs.a004457","article-title":"A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder","volume":"5","author":"Daniels","year":"2019","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"R6-20260120","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K","article-title":"Mechanisms leading to uniparental disomy and their clinical consequences","volume":"22","author":"Robinson","year":"2000","journal-title":"Bioessays"},{"key":"R7-20260120","doi-asserted-by":"crossref","first-page":"2309","DOI":"10.1056\/NEJMra1309483","article-title":"Lactic acidosis","volume":"371","author":"Kraut","year":"2014","journal-title":"N Engl J Med"},{"key":"R8-20260120","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ymgme.2014.06.004","article-title":"Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m 8969G>A) in the mitochondrial encoded ATP6 gene","volume":"113","author":"Burrage","year":"2014","journal-title":"Mol Genet Metab"},{"key":"R9-20260120","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia \u2013MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R10-20260120","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1038\/s41386-018-0090-0","article-title":"Multivariate meta-analyses of mitochondrial complex I and IV in major depressive disorder, bipolar disorder, schizophrenia, Alzheimer disease, and Parkinson disease","volume":"44","author":"Holper","year":"2019","journal-title":"Neuropsychopharmacology"},{"key":"R11-20260120","doi-asserted-by":"crossref","first-page":"1841","DOI":"10.1002\/ccr3.1667","article-title":"Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia","volume":"6","author":"Kim","year":"2018","journal-title":"Clin Case Rep"},{"key":"R12-20260120","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1750-1172-3-18","article-title":"Congenital long QT syndrome","volume":"3","author":"Crotti","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"R13-20260120","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1038\/sj.bmt.1704038","article-title":"Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia","volume":"31","author":"Medeiros","year":"2003","journal-title":"Bone Marrow Transplant"},{"key":"R14-20260120","doi-asserted-by":"crossref","first-page":"2607","DOI":"10.1182\/blood.2020005399","article-title":"Bone marrow regeneration requires mitochondrial transfer from donor Cx43-expressing hematopoietic progenitors to stroma","volume":"136","author":"Golan","year":"2020","journal-title":"Blood"}],"container-title":["Saudi Journal of Medicine &amp; Medical Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/sjmms.sjmms_716_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T16:30:04Z","timestamp":1786725004000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/sjmms.sjmms_716_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/sjmms.sjmms_716_25","relation":{},"ISSN":["1658-631X"],"issn-type":[{"value":"1658-631X","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-09-07","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-02","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}