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A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
- Source :
-
Archives of neurology [Arch Neurol] 2012 Jul; Vol. 69 (7), pp. 908-11. - Publication Year :
- 2012
-
Abstract
- Background: Serine synthesis defects, characterized by developmental delay and seizures, have been described in children.<br />Objective: To describe a case of serine synthesis defect due to 3-phosphoglycerate dehydrogenase deficiency in an adult with prominent chronic polyneuropathy.<br />Design: Case report.<br />Setting: Neurologic referral center.<br />Patient: A 31-year-old man with congenital cataracts, mild psychomotor retardation, slight cerebellar ataxia, and chronic axonal sensorimotor polyneuropathy.<br />Interventions: Electrophysiologic, metabolic, and genetic testing and treatment with oral L-serine.<br />Main Outcome Measures: Serine values in plasma and cerebrospinal fluid and clinical examination.<br />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.<br />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.
- Subjects :
- Administration, Oral
Adult
Amino Acid Metabolism, Inborn Errors blood
Amino Acid Metabolism, Inborn Errors cerebrospinal fluid
Charcot-Marie-Tooth Disease blood
Charcot-Marie-Tooth Disease cerebrospinal fluid
DNA Mutational Analysis
Humans
Male
Metabolic Networks and Pathways genetics
Phosphoglycerate Dehydrogenase genetics
Serine blood
Serine cerebrospinal fluid
Amino Acid Metabolism, Inborn Errors complications
Charcot-Marie-Tooth Disease complications
Phosphoglycerate Dehydrogenase deficiency
Serine administration & dosage
Subjects
Details
- Language :
- English
- ISSN :
- 1538-3687
- Volume :
- 69
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Archives of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 22393170
- Full Text :
- https://doi.org/10.1001/archneurol.2011.1526