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

Méneret, Aurélie;Wiame, Elsa;Marelli, Cecilia;Lenglet, Timothée;Sedel, Frédéric;et.al.
(2012) Archives of Neurology — Vol. 69, n° 7, p. 908-911 (2012)

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Authors
  • Méneret, Aurélie
    author
  • Wiame, ElsaUCLouvain
    author
  • Marelli, Cecilia
    author
  • Lenglet, Timothée
    author
  • Van Schaftingen, EmileUCLouvain
    author
  • Sedel, Frédéric
    author
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Abstract
This case expands the phenotypic spectrum of 3-phosphoglycerate dehydrogenase deficiency. Plasma amino acid chromatography should be added to the list of investigations performed in patients with Charcot-Marie-Tooth–like polyneuropathy, especially if it is associated with psychomotor delay and congenital cataracts.
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