3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
Por:
Pineda M, Vilaseca MA, Artuch-Iriberri R, Santos, S, Gonzalez, MMG, Sau, I, Aracil A, Van Schaftingen, E and Jaeken, J
Publicada:
1 sep 2000
Resumen:
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, add 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 congential error that probably leads to West syndrome.
Filiaciones:
Univ Barcelona, Hosp Sant Joan de Deu, Hosp Clin, Unitat Integrada, Barcelona 08950, Spain.
Inst Cellular & Mol Pathol, Brussels, Belgium.
Univ Hosp Gasthuisberg, Dept Pediat, Ctr Metab Dis, B-3000 Louvain, Belgium.
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