Fatal cerebral edema associated with serine deficiency in CSF

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.

 

Authors: 
I.M. Keularts, P.L. Leroy, E.M. Rubio-Gozalbo, L.J. Spaapen, B. Weber, B. Dorland, T.J. de Koning, N.M. Verhoeven-Duif
Authors from the NMC: 
DOI: 
10.1007/s10545-010-9067-9
Pages: 
2010; 33 Suppl 3:181-185
Published in: 
Journal of Inherited Metabolic Disease
Date of publication: 
March, 2010
Status of the publication: 
Published/accepted