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Besides its role in protein synthesis, L\u2010serine is a precursor of a number of important compounds. Serine biosynthesis defects result from deficiencies in PGDH, PSAT, or PSP and have a broad phenotypic spectrum ranging from Neu\u2010Laxova syndrome, a lethal multiple congenital anomaly disease at the severe end to a childhood disease with intellectual disability at the mild end, with infantile growth deficiency, and severe neurological manifestations as an intermediate phenotype. In this report, we present three subjects with serine biosynthesis effects. The first was a stillbirth with Neu\u2010Laxova syndrome and a homozygous mutation in <jats:italic>PHGDH<\/jats:italic>. The second was a neonate with growth deficiency, microcephaly, ichthyotic skin lesions, seizures, contractures, hypertonia, distinctive facial features, and a homozygous mutation in <jats:italic>PSAT1<\/jats:italic>. The third subject was an infant with growth deficiency, microcephaly, ichthyotic skin lesions, anemia, hypertonia, distinctive facial features, low serine and glycine in plasma and CSF, and a novel homozygous mutation in <jats:italic>PHGDH<\/jats:italic> gene. Herein, we also review previous reports of serine biosynthesis defects and mutations in the <jats:italic>PHGDH, PSAT1<\/jats:italic>, and <jats:italic>PSPH<\/jats:italic> genes, discuss the variability in the phenotypes associated with serine biosynthesis defects, and elaborate on the vital roles of serine and the potential consequences of its deficiency.<\/jats:p>","DOI":"10.1007\/s10545-016-9921-5","type":"journal-article","created":{"date-parts":[[2016,3,10]],"date-time":"2016-03-10T08:44:23Z","timestamp":1457599463000},"page":"373-381","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["On the phenotypic spectrum of serine biosynthesis defects"],"prefix":"10.1002","volume":"39","author":[{"given":"Ayman W.","family":"El\u2010Hattab","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranad","family":"Shaheen","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jozef","family":"Hertecant","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan I.","family":"Galadari","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, College of Medicine and Health Sciences UAE University Al\u2010Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Badi S.","family":"Albaqawi","sequence":"additional","affiliation":[{"name":"Women Specialized Hospital, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amira","family":"Nabil","sequence":"additional","affiliation":[{"name":"Medical Research Institute Alexandria University Alexandria Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia"},{"name":"College of Medicine King Saud University Riyadh Saudi Arabia"},{"name":"Developmental Genetics Unit, Department of Genetics King Faisal Specialist Hospital and Research Center P.O. 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