Fatal cerebral edema associated with serine deficiency in CSF

J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S181-5. doi: 10.1007/s10545-010-9067-9. Epub 2010 Mar 19.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / blood
  • Biomarkers / cerebrospinal fluid
  • Blood Glucose / metabolism
  • Brain / metabolism*
  • Brain Edema / blood
  • Brain Edema / cerebrospinal fluid
  • Brain Edema / diagnosis
  • Brain Edema / etiology*
  • Child
  • Child, Preschool
  • Energy Metabolism
  • Fatal Outcome
  • Female
  • Humans
  • Ketone Bodies / blood
  • Lactic Acid / blood
  • Neurotoxicity Syndromes / blood
  • Neurotoxicity Syndromes / cerebrospinal fluid
  • Neurotoxicity Syndromes / diagnosis
  • Neurotoxicity Syndromes / etiology*
  • Predictive Value of Tests
  • Pyruvic Acid / metabolism
  • Serine / blood
  • Serine / cerebrospinal fluid*
  • Serine / deficiency*

Substances

  • Biomarkers
  • Blood Glucose
  • Ketone Bodies
  • Lactic Acid
  • Serine
  • Pyruvic Acid