{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T22:01:43Z","timestamp":1792101703997,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,11,27]],"date-time":"2010-11-27T00:00:00Z","timestamp":1290816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>3\u2010Phosphoglycerate dehydrogenase (3\u2010PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3\u2010PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed serine values in CSF and plasma identical to what is observed in the severe infantile form. Both patients responded favourably to relatively low dosages of serine supplementation with cessation of seizures, normalisation of their EEG abnormalities and improvement of well\u2010being and behaviour. These cases illustrate that 3\u2010PGDH deficiency can present with mild symptoms and should be considered as a treatable disorder in the differential diagnosis of mild developmental delay and seizures. Synopsis: we present a novel mild phenotype in patients with 3\u2010PGDH deficiency.<\/jats:p>","DOI":"10.1007\/s10545-010-9249-5","type":"journal-article","created":{"date-parts":[[2010,11,26]],"date-time":"2010-11-26T07:26:59Z","timestamp":1290756419000},"page":"181-184","source":"Crossref","is-referenced-by-count":52,"title":["Expanding the clinical spectrum of 3\u2010phosphoglycerate dehydrogenase deficiency"],"prefix":"10.1002","volume":"34","author":[{"given":"L.","family":"Tabatabaie","sequence":"first","affiliation":[{"name":"Department of Metabolic and Endocrine Diseases University Medical Center Utrecht Utrecht The Netherlands"},{"name":"Department of Metabolic Diseases University Medical Center Utrecht KC 03.063.0, PO Box 85090 Utrecht AB 3508 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. W. J.","family":"Klomp","sequence":"additional","affiliation":[{"name":"Department of Metabolic and Endocrine Diseases University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. E.","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Centre Maastricht Utrecht The Netherlands"},{"name":"Department of Biochemical Genetics University Medical Centre Maastricht Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. J. M.","family":"Spaapen","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics University Medical Centre Maastricht Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. A. M.","family":"Haagen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics VieCuri Medical Centre Venlo Venlo The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Dorland","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics University Medical Centre Maastricht Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. J.","family":"de Koning","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases University Medical Center Utrecht KC 03.063.0, PO Box 85090 Utrecht AB 3508 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440219"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-12944"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015624726822"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0269-0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-17373"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.74.6.542"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111419200"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2000.tb00369.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20934"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9249-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T19:47:29Z","timestamp":1694807249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9249-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,27]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1007\/s10545-010-9249-5"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9249-5","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,27]]}}}