title: 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.
abstract: 3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L-serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3-phosphoglycerate dehydrogenase deficiency is a treatable congenital error that probably leads to West syndrome.
authors.affiliation: S. Neuropediatria i Bioquímica, Unitat Integrada, Hospital Sant Joan de Déu/Hospital Clínic, Universitat de Barcelona, Spain. pineda@hsjdbcn.org
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: R
authors.initials: R
authors.lastname: Artuch
authors.forename: S
authors.initials: S
authors.lastname: Santos
authors.forename: M M
authors.initials: MM
authors.lastname: García González
authors.forename: A
authors.initials: A
authors.lastname: Aracil
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D001921:Brain / Q000473:pathology; D002237:Carbohydrate Dehydrogenases / Q000172:deficiency*; D004569:Electroencephalography; D005183:Failure to Thrive; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D019957:Motor Skills Disorders / Q000188:drug therapy / Q000209:etiology; D050543:Phosphoglycerate Dehydrogenase; D012640:Seizures / Q000209:etiology; D012694:Serine / Q000627:therapeutic use*; D013036:Spasms, Infantile / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D016896:Treatment Outcome
chemical_list: D012694:Serine; D002237:Carbohydrate Dehydrogenases; D050543:Phosphoglycerate Dehydrogenase