{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T04:55:57Z","timestamp":1768884957206,"version":"3.49.0"},"reference-count":52,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Bibliometric studies on inherited metabolic diseases (IMDs) do not exist in the literature. Therefore, our research aims to conduct a bibliometric study to determine the current status, trending topics, and missing points of publications on IMDs. Between 1968 and 2023, we conducted a literature search with the keyword \u201cinherited metabolic disease\u201d in the SCOPUS database. We included research articles in medicine written in English and published in the final section. We created our data pool using VOSviewer, SciMAT, and Rstudio software programs for the bibliometric parameters of the articles that met the inclusion criteria. We performed a bibliometric analysis of the data with the R package \u201cbibliometrix\u201d and BibExcel programs. We included 2702 research articles published on IMDs. The top three countries that have written the most articles in this field are the USA (n = 501), the United Kingdom (n = 182), and China (n = 172). The most preferred keywords by the authors were: newborn screening (n = 54), mutation (n = 43), phenylketonuria (n = 42), children (n = 35), genetics (n = 34), and maple syrup urine disease (n = 32). Trending topics were osteoporosis, computed tomography, bone marrow transplantation in the early years of the study, chronic kidney disease, urea cycle disorders, next-generation sequencing, newborn screening, and familial hypercholesterolemia in the final years of the study. This study provides clinicians with a new perspective, showing that molecular and genetic studies of inherited metabolic diseases will play an essential role in diagnosis and treatment in the future.<\/jats:p>","DOI":"10.3390\/children10071205","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:50:41Z","timestamp":1689123041000},"page":"1205","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968\u20132023)"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-7659","authenticated-orcid":false,"given":"Banu","family":"Kad\u0131o\u011flu Y\u0131lmaz","sequence":"first","affiliation":[{"name":"Department of Pediatric Nutrition and Metabolism, Faculty of Medicine, Sel\u00e7uk University, Konya 42250, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7533-4855","authenticated-orcid":false,"given":"Ay\u015fe H\u00fcmeyra","family":"Akg\u00fcl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Necmettin Erbakan University, Konya 42080, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"ref_1","first-page":"326","article-title":"Recent research on inherited metabolic diseases in children","volume":"24","author":"Li","year":"2022","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/s00431-003-1352-2","article-title":"Early diagnosis of inherited metabolic disorders towards improving outcome: The controversial issue of galactosaemia","volume":"162","year":"2003","journal-title":"Eur. J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/s13023-021-01727-2","article-title":"Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app","volume":"16","author":"Wortmann","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Lenzini, L., Carraro, G., Avogaro, A., and Vitturi, N. (2022). Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience. Biomolecules, 12.","DOI":"10.3390\/biom12070920"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Wasim, M., Khan, H.N., Ayesha, H., and Awan, F.R. (2023). Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries. Adv. Biol., e2200318. online ahead of print.","DOI":"10.1002\/adbi.202200318"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.spen.2016.11.001","article-title":"Neonatal Screening for Inherited Metabolic Diseases in 2016","volume":"23","author":"Villoria","year":"2016","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.cca.2019.03.1622","article-title":"Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population","volume":"494","author":"Lin","year":"2019","journal-title":"Clin. Chim. Acta"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1002\/pd.4663","article-title":"Inherited metabolic disorders: Prenatal diagnosis of lysosomal storage disorders","volume":"35","author":"Verma","year":"2015","journal-title":"Prenat. Diagn."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"467","DOI":"10.21037\/atm.2018.11.36","article-title":"Inborn errors of metabolism in the 21st century: Past to present","volume":"6","author":"Arnold","year":"2018","journal-title":"Ann. Transl. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1309\/LM62LVV5OSLUJOQF","article-title":"Ivar Asbj\u00f6rn F\u00f8lling: Discovered Phenylketonuria (PKU)","volume":"41","author":"Gonzalez","year":"2010","journal-title":"Lab. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/S0140-6736(10)60961-0","article-title":"Phenylketonuria","volume":"376","author":"Blau","year":"2010","journal-title":"Lancet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1002\/humu.20526","article-title":"The PAH gene, phenylketonuria, and a paradigm shift","volume":"28","author":"Scriver","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1373\/clinchem.2003.022178","article-title":"Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns","volume":"49","author":"Chace","year":"2003","journal-title":"Clin. Chem."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1053\/j.semperi.2015.03.002","article-title":"Current status of newborn screening worldwide: 2015","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin. Perinatol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"939433","DOI":"10.3389\/fimmu.2022.939433","article-title":"Knowledge Mapping of Exosomes in Autoimmune Diseases: A Bibliometric Analysis (2002\u20132021)","volume":"13","author":"Wu","year":"2022","journal-title":"Front. Immunol."},{"key":"ref_17","unstructured":"De Oliveira, O.J., Da Silva, F.F., Juliani, F., Barbosa, L.C.F.M., and Nunhes, T.V. (2019). Scientometrics Recent Advances, Intech."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"842","DOI":"10.3389\/fphar.2020.00842","article-title":"Knowledge Mapping of Drug-Induced Liver Injury: A Scientometric Investigation (2010\u20132019)","volume":"11","author":"Ke","year":"2020","journal-title":"Front. Pharmacol."},{"key":"ref_19","first-page":"724","article-title":"CiteSpace II: Visualization and Knowledge Discovery in Bibliographic Databases","volume":"2005","author":"Synnestvedt","year":"2005","journal-title":"AMIA Annu. Symp. Proc."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"37","DOI":"10.3389\/fphar.2020.00037","article-title":"Lignans: Quantitative Analysis of the Research Literature","volume":"11","author":"Yeung","year":"2020","journal-title":"Front. Pharmacol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/j.ijid.2020.05.014","article-title":"The Global State of Clinical Research and Trends in Periprosthetic Joint Infection: A Bibliometric Analysis","volume":"96","author":"Li","year":"2020","journal-title":"Int. J. Infect. Dis."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3389\/fphar.2020.00294","article-title":"Knowledge Mapping of Angelica Sinensis (Oliv.) Diels (Danggui) Research: A Scientometric Study","volume":"11","author":"Lu","year":"2020","journal-title":"Front. Pharmacol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e215840","DOI":"10.1001\/jamanetworkopen.2021.5840","article-title":"Bibliometric Analysis of Neurology Articles Published in General Medicine Journals","volume":"4","author":"Wilson","year":"2021","journal-title":"JAMA Netw. Open"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"874640","DOI":"10.3389\/fimmu.2022.874640","article-title":"Bibliometric Analysis of \u03b3\u03b4 T Cells as Immune Regulators in Cancer Prognosis","volume":"13","author":"Liu","year":"2022","journal-title":"Front. Immunol."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Li, C., Wang, L., Perka, C., and Trampuz, A. (2021). Clinical application of robotic orthopedic surgery: A bibliometric study. BMC Musculoskelet. Disord., 22.","DOI":"10.1186\/s12891-021-04714-7"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.ajem.2022.08.001","article-title":"A bibliometric study on the publication errors in emergency medicine journals from 2000 to 2020","volume":"60","author":"Vural","year":"2022","journal-title":"Am. J. Emerg. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"592","DOI":"10.2174\/1871530321666201223110918","article-title":"Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis","volume":"21","author":"Bharadwaj","year":"2021","journal-title":"Endocr. Metab. Immune Disord. Drug Targets"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"101213","DOI":"10.1016\/j.cpcardiol.2022.101213","article-title":"Bibliometric Analysis on the Progress of Chronic Heart Failure","volume":"47","author":"Wang","year":"2022","journal-title":"Curr. Probl. Cardiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/j.wneu.2020.01.027","article-title":"Glioblastome Multiforme: A Bibliometric Analysis","volume":"136","author":"Akmal","year":"2020","journal-title":"World Neurosurg."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Koo, M. (2021). Systemic Lupus Erythematosus Research: A Bibliometric Analysis over a 50-Year Period. Int. J. Environ. Res. Public Health, 18.","DOI":"10.3390\/ijerph18137095"},{"key":"ref_31","first-page":"101188","article-title":"System for evaluating the reliability and novelty of medical scientific papers","volume":"15","author":"Cabezas","year":"2021","journal-title":"J. Inf."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e187","DOI":"10.3928\/19382359-20180426-01","article-title":"Updates in Newborn Screening","volume":"47","author":"Rajabi","year":"2018","journal-title":"Pediatr. Ann."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1038\/gim.2016.35","article-title":"Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State","volume":"18","author":"Wasserstein","year":"2016","journal-title":"Genet. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ymgme.2009.10.008","article-title":"Future treatment strategies in phenylketonuria","volume":"99","author":"Enns","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_35","first-page":"725","article-title":"La ph\u00e9nylc\u00e9tonurie\u2014De la di\u00e9t\u00e9tique \u00e0 la th\u00e9rapie g\u00e9nique [Phenylketonuria, from diet to gene therapy]","volume":"36","author":"Wiedemann","year":"2020","journal-title":"Med. Sci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1186\/s12967-016-0930-9","article-title":"New perspective in diagnostics of mitochondrial disorders: Two years\u2019 experience with whole-exome sequencing at a national paediatric centre","volume":"14","author":"Pronicka","year":"2016","journal-title":"J. Transl. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"667","DOI":"10.3233\/JND-230013","article-title":"Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing","volume":"10","author":"Chen","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"e173438","DOI":"10.1001\/jamapediatrics.2017.3438","article-title":"Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management","volume":"171","author":"Meng","year":"2017","journal-title":"JAMA Pediatr."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2020.08.001","article-title":"Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project","volume":"107","author":"Roman","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"\u015amigiel, R., Biela, M., Szmyd, K., B\u0142och, M., Szmida, E., Skiba, P., Walczak, A., Gasperowicz, P., Kosi\u0144ska, J., and Rydzanicz, M. (2020). Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal\/Pediatric Intensive Care Unit. J. Clin. Med., 9.","DOI":"10.3390\/jcm9072220"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1146\/annurev-med-122313-085916","article-title":"Lysosomal storage diseases: From pathophysiology to therapy","volume":"66","author":"Parenti","year":"2015","journal-title":"Annu. Rev. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1023\/A:1015668425004","article-title":"Maple syrup urine disease: Mutation analysis in Turkish patients","volume":"25","author":"Dursun","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_43","first-page":"91","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management","volume":"35","author":"Chandler","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_44","first-page":"436","article-title":"Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation","volume":"50","author":"Yu","year":"2021","journal-title":"Zhejiang Da Xue Xue Bao Yi Xue Ban"},{"key":"ref_45","first-page":"53","article-title":"Gene therapy for inherited metabolic diseases","volume":"24","author":"Yilmaz","year":"2020","journal-title":"J. Mother Child"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s10545-017-0131-6","article-title":"Next-generation metabolic screening: Targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients","volume":"41","author":"Coene","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.tig.2014.07.001","article-title":"Ten years of next-generation sequencing technology","volume":"30","author":"Auger","year":"2014","journal-title":"Trends Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"5927","DOI":"10.1007\/s00216-021-03425-1","article-title":"Advanced tandem mass spectrometry in metabolomics and lipidomics-methods and applications","volume":"413","author":"Heiles","year":"2021","journal-title":"Anal. Bioanal. Chem."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"eaan4672","DOI":"10.1126\/science.aan4672","article-title":"Gene therapy comes of age","volume":"359","author":"Dunbar","year":"2018","journal-title":"Science"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s10545-018-0223-y","article-title":"Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy","volume":"41","author":"Brooks","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_51","first-page":"553","article-title":"Nucleasemediated gene therapies for inherited metabolic diseases of the liver","volume":"90","author":"Bryson","year":"2017","journal-title":"Yale J. Biol. Med."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1007\/s10545-018-0199-7","article-title":"Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia","volume":"41","author":"Lee","year":"2018","journal-title":"J. Inherit. Metab. Dis."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/7\/1205\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:11:04Z","timestamp":1760127064000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/7\/1205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,12]]},"references-count":52,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["children10071205"],"URL":"https:\/\/doi.org\/10.3390\/children10071205","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,12]]}}}