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.

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.

• Authors: Aurélie Méneret, Elsa Wiame, Cecilia Marelli, Timothée Lenglet, Emile Van Schaftingen, Frédéric Sedel
• Journal: Archives of neurology (Arch Neurol) Vol. 69 Issue 7 Pg. 908-11 (Jul 2012) ISSN: 1538-3687 [Electronic] United States
• PMID: 22393170 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Serine
• Phosphoglycerate Dehydrogenase

Topics

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