{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:28:34Z","timestamp":1777804114716,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2017,1,31]],"date-time":"2017-01-31T00:00:00Z","timestamp":1485820800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. With such phenotypic variability, the diagnosis of PGDH deficiency can be challenging.<\/jats:p>","DOI":"10.1177\/0883073817690094","type":"journal-article","created":{"date-parts":[[2017,1,31]],"date-time":"2017-01-31T17:34:37Z","timestamp":1485884077000},"page":"543-549","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":20,"title":["Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges"],"prefix":"10.1177","volume":"32","author":[{"given":"Paul J.","family":"Benke","sequence":"first","affiliation":[{"name":"Joe DiMaggio Children\u2019s Hospital, Hollywood, FL, USA"},{"name":"Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, FL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan J.","family":"Hidalgo","sequence":"additional","affiliation":[{"name":"Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, FL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce H.","family":"Braffman","sequence":"additional","affiliation":[{"name":"Department of Radiology, Memorial Healthcare System, Hollywood, FL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Jans","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen L.I. van","family":"Gassen","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rawda","family":"Sunbul","sequence":"additional","affiliation":[{"name":"Pediatrics Medical Genetic Unit (PMGU), Pediatrics Department, Qatif Central Hospital, Qatif, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayman W.","family":"El-Hattab","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,1,31]]},"reference":[{"key":"bibr1-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9592-4"},{"key":"bibr2-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-15720-2_25"},{"key":"bibr3-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.04.010"},{"key":"bibr4-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1679\/aohc.66.109"},{"key":"bibr5-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.603860"},{"key":"bibr6-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9921-5"},{"key":"bibr7-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440219"},{"key":"bibr8-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-17373"},{"key":"bibr9-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1136\/adc.74.6.542"},{"key":"bibr10-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1086\/316886"},{"key":"bibr11-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162200001171"},{"key":"bibr12-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.10.007"},{"key":"bibr13-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-12944"},{"key":"bibr14-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015624726822"},{"key":"bibr15-0883073817690094","volume-title":"Smith\u2019s Recognizable Patterns of Human Malformation","author":"Jones KL","year":"2013"},{"key":"bibr16-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2003.03017.x"},{"key":"bibr17-0883073817690094","doi-asserted-by":"publisher","DOI":"10.3109\/15513819509026940"},{"key":"bibr18-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20467"},{"key":"bibr19-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20934"},{"key":"bibr20-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9249-5"},{"key":"bibr21-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182345896"},{"key":"bibr22-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-1839"},{"key":"bibr23-0883073817690094","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17596-X"},{"key":"bibr24-0883073817690094","doi-asserted-by":"crossref","unstructured":"van Karnebeek CDM, Houben RFA, Lafek M, Giannasi W, Stockler S. The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases. Orphanet J Rare Dis. 2012;7:47.","DOI":"10.1186\/1750-1172-7-47"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073817690094","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073817690094","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073817690094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:39:00Z","timestamp":1777495140000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073817690094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,31]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1177\/0883073817690094"],"URL":"https:\/\/doi.org\/10.1177\/0883073817690094","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,31]]}}}