Fatal cerebral edema associated with serine deficiency in CSF

Research output: Contribution to journalArticle


Two young girls without a notable medical history except for asthma presented with an acute toxic encephalopathy with very low serine concentrations both in plasma and cerebrospinal fluid (CSF) comparable to patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency. Clinical symptoms and enzyme measurement (in one patient) excluded 3-PGDH deficiency. Deficiencies in other serine biosynthesis enzymes were highly unlikely on clinical grounds. On basis of the fasting state, ketone bodies and lactate in plasma, urine and CSF, we speculate that reduced serine levels were due to its use as gluconeogenic substrate, conversion to pyruvate by brain serine racemase or decreased L-serine production because of a lack of glucose. These are the first strikingly similar cases of patients with a clear secondary serine deficiency associated with a toxic encephalopathy.


  • Irene M.L.W. Keularts
  • Piet L.J.M. Leroy
  • Estela M. Rubio-Gozalbo
  • Leo J.M. Spaapen
  • Biene Weber
  • Bert Dorland
  • Tom J. De Koning
  • Nanda M. Verhoeven-Duif
External organisations
  • Wilhelmina Children’s Hospital
  • University Medical Center Utrecht
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology
  • Pediatrics
Original languageEnglish
Pages (from-to)181-185
JournalJournal of Inherited Metabolic Disease
Issue numberSUPPL. 3
Publication statusPublished - 2010 Dec
Publication categoryResearch
Externally publishedYes