Fatal cerebral edema associated with serine deficiency in CSF.
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ABSTRACT:
SUBMITTER: Keularts IM
PROVIDER: S-EPMC3757259 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Publications
Fatal cerebral edema associated with serine deficiency in CSF.
Keularts Irene M L W IM Leroy Piet L J M PL Rubio-Gozalbo Estela M EM Spaapen Leo J M LJ Weber Biene B Dorland Bert B de Koning Tom J TJ Verhoeven-Duif Nanda M NM
Journal of inherited metabolic disease 20100319
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 a ...[more]
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