{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T19:07:43Z","timestamp":1754161663459,"version":"3.41.2"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>D\u2010lactate is an isomeric form of lactate, which is almost undetectable in the circulation in individuals with normal lactate metabolism. Patients diagnosed with the disease human D\u2010lactate dehydrogenase deficiency present with elevated plasma D\u2010lactate, causing D\u2010lactic acidosis, which can be associated with neurological symptoms. This paper reports a Danish patient presenting with delayed psycho\u2010motor development and metabolic acidosis. Whole genome sequencing (WGS) revealed a homozygous 0.1\u2009Mb loss of the long arm of chromosome 16 involving 3 protein coding genes, <jats:italic>CTRB2<\/jats:italic>, <jats:italic>ZFP1<\/jats:italic>, and exon 1\u20137 of the <jats:italic>LDHD<\/jats:italic> gene (NM_194436.3c: 1_930del, p.M1_Q310del), which encodes the human D\u2010lactate dehydrogenase enzyme. Metabolic screening of the plasma and urine demonstrated elevated levels of D\u2010lactate. Based on the genetic and biochemical findings, the patient was diagnosed with human D\u2010lactate dehydrogenase deficiency. Biochemical and molecular studies, including WGS, did not disclose any additional pathogenic findings. This report compares the laboratory and clinical findings in our patient with observations in other patients diagnosed with human D\u2010lactate dehydrogenase deficiency described in the literature. The comparison shows that the clinical symptoms vary among patients with pathogenic variants in the <jats:italic>LDHD<\/jats:italic> gene, but an elevated level of D\u2010lactate in plasma and urine is found in all patients. Some reported patients had additional diseases, while the boy reported here was most probably solely affected by D\u2010lactate dehydrogenase deficiency, making the clinical picture clearer. Take\u2010home message: Human D\u2010lactate dehydrogenase deficiency can be caused by pathogenic variants of the <jats:italic>LDHD<\/jats:italic> gene, and shows a broad phenotypic variability, with some patients only having increased plasma urate\/gout and others neurological findings and psycho\u2010motor developmental delay.<\/jats:p>","DOI":"10.1002\/jmd2.70039","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T07:58:56Z","timestamp":1752739136000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Human D\u2010Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy"],"prefix":"10.1002","volume":"66","author":[{"given":"T. B.","family":"Sloth","sequence":"first","affiliation":[{"name":"Centre of Inherited Metabolic Diseases, Department of Pediatric and Adolescent Medicine Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. C.","family":"\u00d8rngreen","sequence":"additional","affiliation":[{"name":"Centre of Inherited Metabolic Diseases, Department of Pediatric and Adolescent Medicine Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ek","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Bache","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Wibrand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6091-7879","authenticated-orcid":false,"given":"A. M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Centre of Inherited Metabolic Diseases, Department of Pediatric and Adolescent Medicine Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-42456-3"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09458-6"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/3419034"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12220"},{"issue":"6","key":"e_1_2_13_6_1","article-title":"D\u2010Lactate: Implications for Gastrointestinal Diseases","volume":"10","author":"Remund B.","year":"2023","journal-title":"Children (Basel)"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/yea.2942"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1309483"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfq829"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199803000-00001"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/476215"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kead118"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI129057"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90297-2"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2024.109932"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70039","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T05:26:22Z","timestamp":1753766782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/jmd2.70039"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70039","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"2025-03-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70039"}}