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

Arch Neurol. 2012 Jul;69(7):908-11. doi: 10.1001/archneurol.2011.1526.


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.

Interventions: Electrophysiologic, metabolic, and genetic testing and treatment with oral L-serine.

Main outcome measures: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Adult
  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / cerebrospinal fluid
  • Amino Acid Metabolism, Inborn Errors / complications*
  • Charcot-Marie-Tooth Disease / blood
  • Charcot-Marie-Tooth Disease / cerebrospinal fluid
  • Charcot-Marie-Tooth Disease / complications*
  • DNA Mutational Analysis
  • Humans
  • Male
  • Metabolic Networks and Pathways / genetics
  • Phosphoglycerate Dehydrogenase / deficiency*
  • Phosphoglycerate Dehydrogenase / genetics
  • Serine / administration & dosage*
  • Serine / blood
  • Serine / cerebrospinal fluid


  • Serine
  • Phosphoglycerate Dehydrogenase