Journal of Inherited Metabolic Disease

, Volume 36, Issue 4, pp 613–619 | Cite as

An update on serine deficiency disorders

  • 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 KoningEmail author
Original Article


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.


Infantile Spasm West Syndrome Phosphoserine Phosphatase Phosphoserine Aminotransferase Congenital Microcephaly 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Conflict of interest



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Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • S. N. van der Crabben
    • 1
  • N. M. Verhoeven-Duif
    • 2
  • E. H. Brilstra
    • 1
  • L. Van Maldergem
    • 3
  • T. Coskun
    • 4
  • E. Rubio-Gozalbo
    • 5
  • R. Berger
    • 6
  • T. J. de Koning
    • 7
    Email author
  1. 1.Department of Medical GeneticsUniversity Medical Center UtrechtUtrechtThe Netherlands
  2. 2.Department of Metabolic DiseasesUniversity Medical Center UtrechtUtrechtthe Netherlands
  3. 3.Centre de Génétique HumaineUniversité de Franche-ComtéBesançonFrance
  4. 4.Department of Metabolic DiseasesHacettepe University Faculty of MedicineAnkaraTurkey
  5. 5.Department of PediatricsMaastricht University Medical CentreMaastrichtThe Netherlands
  6. 6.Division of Analytical Biosciences, Netherlands Metabolomics Centre, LACDRLeiden UniversityLeidenThe Netherlands
  7. 7.Departments of Genetics and NeurologyUniversity of Groningen, HP CB 50, University Medical Center GroningenGroningenThe Netherlands

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