A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

  title={A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.},
  author={Aur{\'e}lie M{\'e}neret and Elsa Wiame and C Marelli and Timoth{\'e}e Lenglet and Emile van Schaftingen and Fr{\'e}d{\'e}ric Sedel},
  journal={Archives of neurology},
  volume={69 7},
BACKGROUND Serine synthesis defects, characterized by developmental delay and seizures, have been described in children. OBJECTIVE To describe a case of serine synthesis defect due to 3-phosphoglycerate dehydrogenase deficiency in an adult with prominent chronic polyneuropathy. DESIGN Case report. SETTING Neurologic referral center. PATIENT A 31-year-old man with congenital cataracts, mild psychomotor retardation, slight cerebellar ataxia, and chronic axonal sensorimotor polyneuropathy… CONTINUE READING


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Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency: a neurometabolic disorder associated with reduced L-serine biosynthesis

  • LW Klomp, TJ de Koning, HE Malingré
  • Am J Hum Genet
  • 2000
1 Excerpt

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