{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:02:16Z","timestamp":1790550136604,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To present the very long\u2010term follow up of patients with cobalamin A (cblA) deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective case series of adult (&gt;16\u2009years) patients with molecular or enzymatic diagnosis of cblA deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 23 patients (mean age: 27\u2009\u00b1\u20097.6\u2009years; mean follow\u2010up: 24.9\u2009\u00b1\u20097.6\u2009years). Disease onset was mostly pediatric (78%\u2009&lt;\u20091 year, median\u00a0= 4 months) with acute neurologic deterioration (65%). Eight patients presented with chronic symptoms, and one had an adult\u2010onset mild cblA deficiency. Most of the patients (61%) were initially classified as vitamin B12\u2010unresponsive methylmalonic aciduria (MMA); in vitro B12 responsiveness was subsequently found in all the tested patients (<jats:italic>n<\/jats:italic>\u00a0=\u200913). Initial management consisted of protein restriction (57%), B12 (17%), or both (26%). The main long\u2010term problems were intellectual disability (39%) and renal failure (30%). However, 56.5% of the patients were living independently. Intellectual disability was equally distributed among the initial treatment groups, while renal failure (moderate and beginning at the age of 38\u2009years) was present in only one out of seven patients initially treated with B12.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We provide a detailed picture of the long\u2010term outcome of a series of adult cblA patients, mostly diagnosed before the enzymatic and molecular era. We confirm that about 35% of the patients do not present acutely, underlining the importance of measuring MMA in any case of unexplained chronic renal failure, intellectual disability, or growth delay. In addition, we describe a patient with a milder adult\u2010onset form. Early B12 supplementation seems to protect from severe renal insufficiency.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12525","type":"journal-article","created":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T02:04:40Z","timestamp":1653617080000},"page":"937-951","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Very long\u2010term outcomes in 23 patients with <scp>cblA<\/scp> type methylmalonic acidemia"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9543-6311","authenticated-orcid":false,"given":"Cecilia","family":"Marelli","sequence":"first","affiliation":[{"name":"Expert Centre for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases University Hospital of Montpellier  Montpellier France"},{"name":"MMDN University of Montpellier, Ecole Pratique des Hautes Etudes, Inserm  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fouilhoux","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Error of Metabolism H\u00f4pital Femme M\u00e8re Enfant, Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Francois","family":"Benoist","sequence":"additional","affiliation":[{"name":"Inserm UMR_S1163 Institut Imagine  Paris France"},{"name":"Biochemistry Department H\u00f4pital Necker Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"De Lonlay","sequence":"additional","affiliation":[{"name":"Necker Hospital, Assistance Publique \u2013 H\u00f4pitaux de Paris, Reference Center for Inborn Error of Metabolism and Fili\u00e8re G2M, Pediatrics Department University of Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon\u2010Fouilhoux","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Error of Metabolism H\u00f4pital Femme M\u00e8re Enfant, Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anais","family":"Brassier","sequence":"additional","affiliation":[{"name":"Necker Hospital, Assistance Publique \u2013 H\u00f4pitaux de Paris, Reference Center for Inborn Error of Metabolism and Fili\u00e8re G2M, Pediatrics Department University of Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Cano","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, Assistance Publique H\u00f4pitaux de Marseille Centre Hospitalier Universitaire de La Timone Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, Assistance Publique H\u00f4pitaux de Marseille Centre Hospitalier Universitaire de La Timone Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Pennisi","sequence":"additional","affiliation":[{"name":"Necker Hospital, Assistance Publique \u2013 H\u00f4pitaux de Paris, Reference Center for Inborn Error of Metabolism and Fili\u00e8re G2M, Pediatrics Department University of Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[{"name":"Inserm UMR_S1163 Institut Imagine  Paris France"},{"name":"Necker Hospital, Assistance Publique \u2013 H\u00f4pitaux de Paris, Reference Center for Inborn Error of Metabolism and Fili\u00e8re G2M, Pediatrics Department University of Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Acquaviva","sequence":"additional","affiliation":[{"name":"Center for Inherited Metabolic Disorders and Neonatal Screening, Est Biology and Pathology Department, Groupement Hospitalier Est (GHE) Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"C. 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