An update on serine deficiency disorders

Research output: Contribution to journalArticle


Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.


  • S. N. Van Der Crabben
  • N. M. Verhoeven-Duif
  • E. H. Brilstra
  • L. Van Maldergem
  • T. Coskun
  • E. Rubio-Gozalbo
  • R. Berger
  • T. J. De Koning
External organisations
  • University Medical Center Utrecht
  • University of Franche-Comté
  • Hacettepe University
  • Maastricht University
  • Leiden University
  • University Medical Center Groningen
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology
Original languageEnglish
Pages (from-to)613-619
Number of pages7
JournalJournal of Inherited Metabolic Disease
Issue number4
Publication statusPublished - 2013 Jul 1
Publication categoryResearch
Externally publishedYes