A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
Arch Neurol
; 69(7): 908-11, 2012 Jul.
Article
in En
| MEDLINE
| ID: mdl-22393170
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 OUTCOMEMEASURES:
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-Toothlike polyneuropathy, especially if it is associated with psychomotor delay and congenital cataracts.
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Database:
MEDLINE
Main subject:
Serine
/
Charcot-Marie-Tooth Disease
/
Phosphoglycerate Dehydrogenase
/
Amino Acid Metabolism, Inborn Errors
Limits:
Adult
/
Humans
/
Male
Language:
En
Year:
2012
Type:
Article