{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,8]],"date-time":"2025-02-08T05:07:07Z","timestamp":1738991227709,"version":"3.37.0"},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T00:00:00Z","timestamp":1738886400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T00:00:00Z","timestamp":1738886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>We read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additional aspects to enhance clinical relevance and diagnostic precision. We highlight the variability in serum MMA levels due to dietary intake, renal function, and external factors, advocating for the integration of supplementary diagnostic tools, such as the 1\u201313\u00a0C-propionate oxidation breath test, alongside biomarkers like fibroblast growth factor 21, growth differentiation factor 15, and lipocalin-2, to improve diagnostic accuracy. Additionally, we discuss the limitations of first-tier newborn screening tests due to high false positive rates and recommend second-tier testing using liquid chromatography coupled with tandem mass spectrometry to increase specificity and reduce false positives. Moreover, we address the underestimation of liver dysfunction in MMA patients, noting the need for longitudinal follow-up to capture the progression of liver function abnormalities. This critique is intended to constructively expand the authors\u2019 findings and underscore the importance of a comprehensive diagnostic and management approach to MMA, ultimately improving patient outcomes.<\/jats:p>","DOI":"10.1186\/s13023-025-03585-8","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T05:47:56Z","timestamp":1738907276000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study"],"prefix":"10.1186","volume":"20","author":[{"given":"Hiba","family":"Abid","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3821-5416","authenticated-orcid":false,"given":"Areeba","family":"Abid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Sohail","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Jawaid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"3585_CR1","unstructured":"Su L, Sheng H, Li X, Cai Y, Mei H, Cheng J et al. Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study."},{"issue":"4","key":"3585_CR2","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1002\/jimd.12636","volume":"46","author":"I Manoli","year":"2023","unstructured":"Manoli I, Gebremariam A, McCoy S, Pass AR, Gagn\u00e9 J, Hall C, et al. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. J Inherit Metab Dis. 2023;46(4):554\u201372.","journal-title":"J Inherit Metab Dis"},{"key":"3585_CR3","doi-asserted-by":"crossref","unstructured":"Rossi C, Cicalini I, Rizzo C, Zucchelli M, Consalvo A, Valentinuzzi S et al. A false-positive case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on maternal malnutrition in pregnancy. Int J Environ Res Public Health. 2020;17(10).","DOI":"10.3390\/ijerph17103601"},{"issue":"5","key":"3585_CR4","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1002\/jimd.12143","volume":"42","author":"P Forny","year":"2019","unstructured":"Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, et al. Liver neoplasms in methylmalonic aciduria: an emerging complication. J Inherit Metab Dis. 2019;42(5):793\u2013802.","journal-title":"J Inherit Metab Dis"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03585-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03585-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03585-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T05:47:59Z","timestamp":1738907279000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03585-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,7]]},"references-count":4,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3585"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03585-8","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,7]]},"assertion":[{"value":"31 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"None.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"54"}}