{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:00:56Z","timestamp":1790550056343,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,2,3]],"date-time":"2010-02-03T00:00:00Z","timestamp":1265155200000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In the cblF defect of vitamin B\n                    <jats:sub>12<\/jats:sub>\n                    (cobalamin) metabolism, cobalamin is trapped in lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for methionine synthase and methylmalonyl\u2010coenzyme A (CoA) mutase are deficient. We recently identified\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    as the causative gene located on chromosome 6q13 and showed that 18 out of 24 alleles in unrelated patients carried the deletion c.1056delG (p.L352fsX18) (Rutsch et al. (Nat Genet 41:234\u2013239,\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#CR16\">2009<\/jats:ext-link>\n                    ).\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    encodes the lysosomal membrane protein LMBD1, which presumably facilitates lysosomal cobalamin export. Our patient is the second child of consanguineous Turkish parents. He presented on the second day of life with cerebral seizures due to intraventricular hemorrhage. Plasma homocysteine and urinary methylmalonic acid levels were elevated, and serum cobalamin level was decreased. Synthesis of both cobalamin coenzymes was deficient in cultured skin fibroblasts. The cblF defect was confirmed by somatic complementation analysis. Sequencing of\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    revealed the novel deletion c.1405delG (p.D469fsX38) on both alleles. Real\u2010time polymerase chain reaction (PCR) revealed reduced messenger RNA (mRNA) levels in patient fibroblasts compared with controls. Transfection of patient fibroblasts with the LMBD1 wild\u2010type complement DNA (cDNA) rescued coenzyme synthesis and function, confirming this new deletion as an additional cause of the cblF defect. This case adds to the spectrum of clinical presentations and mutations of this rare disorder of lysosomal transport.\n                  <\/jats:p>","DOI":"10.1007\/s10545-009-9032-7","type":"journal-article","created":{"date-parts":[[2010,2,2]],"date-time":"2010-02-02T03:13:50Z","timestamp":1265080430000},"page":"17-24","source":"Crossref","is-referenced-by-count":29,"title":["A novel mutation in\n                    <i>LMBRD1<\/i>\n                    causes the cblF defect of vitamin B\n                    <sub>12<\/sub>\n                    metabolism in a Turkish patient"],"prefix":"10.1002","volume":"33","author":[{"given":"Susann","family":"Gailus","sequence":"first","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terttu","family":"Suormala","sequence":"additional","affiliation":[{"name":"Metabolic Unit University Children's Hospital Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse G\u00fcl","family":"Malerczyk\u2010Aktas","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics University Hospital of Giessen and Marburg Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad R.","family":"Toliat","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics and Institute for Genetics Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Wittkampf","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Stucki","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Molecular Pediatrics University Children's Hospital Z\u00fcrich Switzerland"},{"name":"Z\u00fcrich Center for Integrative Human Physiology (ZIHP) University of Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics and Institute for Genetics Cologne Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Response in Aging\u2010associated Diseases (CECAD) University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Fowler","sequence":"additional","affiliation":[{"name":"Metabolic Unit University Children's Hospital Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia B.","family":"Hennermann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Charit\u00e9 University Medical Center Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital M\u00fcnster Germany"},{"name":"Klinik und Poliklinik f\u00fcr Kinder\u2010 und Jugendmedizin Universit\u00e4tsklinikum M\u00fcnster Albert\u2010Schweitzer Strasse 33 M\u00fcnster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,2,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20065"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/105381518601000204"},{"issue":"12","key":"e_1_2_7_4_1","first-page":"ECR45","article-title":"Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency","volume":"90","author":"Campbell 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