title: A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
abstract: 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.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Neurologic referral center.
  
  
  METHODS
  A 31-year-old man with congenital cataracts, mild psychomotor retardation, slight cerebellar ataxia, and chronic axonal sensorimotor polyneuropathy.
  
  
  METHODS
  Electrophysiologic, metabolic, and genetic testing and treatment with oral L-serine.
  
  
  METHODS
  Serine values in plasma and cerebrospinal fluid and clinical examination.
  
  
  RESULTS
  Amino acid analysis showed low serine levels in plasma and cerebrospinal fluid, and genetic analysis revealed 2 heterozygous mutations in the PGDH gene. Treatment with high-dose serine resulted in normalization of plasma serine values and subjective functional improvement.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Méneret
authors.forename: Elsa
authors.initials: E
authors.lastname: Wiame
authors.forename: Cecilia
authors.initials: C
authors.lastname: Marelli
authors.forename: Timothée
authors.initials: T
authors.lastname: Lenglet
authors.forename: Emile
authors.initials: E
authors.lastname: Van Schaftingen
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
mesh_terms: D000284:Administration, Oral; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000134:cerebrospinal fluid / Q000150:complications*; D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000134:cerebrospinal fluid / Q000150:complications*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D053858:Metabolic Networks and Pathways / Q000235:genetics; D050543:Phosphoglycerate Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D012694:Serine / Q000008:administration & dosage* / Q000097:blood / Q000134:cerebrospinal fluid
chemical_list: D012694:Serine; D050543:Phosphoglycerate Dehydrogenase