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Here, we reported the first Chinese familial cases with genetically confirmed PHGDH deficiency and reviewed several previous reports. Two siblings in this family presented with microcephaly, psychomotor retardation, and epilepsy in early juvenile. Brain magnetic resonance imaging (MRI) showed only a slight change of enlarged ventricle. Biochemical investigations revealed low serum serine and glycine concentrations. The whole\u2010exome sequencing (WES) results identified a missense variant in the <jats:italic>PHGDH<\/jats:italic> gene (NM_006623.4: exon11: c.1211T&gt;A, p. Val404Asp). Although two patients in this Chinese family carried the same pathogenic mutation in the PHGDH, their symptoms and responses to treatment were not exactly the same. We found a novel variant in the <jats:italic>PHGDH<\/jats:italic> gene and expanded the genotypic and phenotypic spectrum of serine biosynthesis disorders.<\/jats:p>","DOI":"10.1002\/jdn.10236","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T06:44:45Z","timestamp":1667025885000},"page":"44-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of <i>PHGDH<\/i> gene: Case report and literature review"],"prefix":"10.1002","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5400-3894","authenticated-orcid":false,"given":"Junyi","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital of Tongji Medical College Huazhong University of Science and Technology  Wuhan 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