3-phosphoglycerate dehydrogenase deficiency: A case report of a treatable cause of seizures

Research output: Contribution to journalArticle

Abstract

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only. This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. A timely diagnosis based on the detection of low cerebrospinal fluid levels of L-serine and glycine is expected to further increase the success of L-serine and glycine supplementation in these patients.

Details

Authors
  • Turgay Coşkun
  • Halil Ibrahim Aydin
  • Mustafa Kiliç
  • Ali Dursun
  • Göknur Haliloǧlu
  • Haluk Topaloǧlu
  • Kader Karli-Oǧuz
  • Tom J. De Koning
External organisations
  • Hacettepe University
  • University Medical Center Utrecht
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical and Health Sciences

Keywords

  • 3-phosphoglycerate dehydrogenase deficiency, Congenital microcephaly, Drug-resistant seizures, L-serine deficiency syndromes, L-serine supplementation
Original languageEnglish
Pages (from-to)587-592
Number of pages6
JournalTurkish Journal of Pediatrics
Volume51
Issue number6
Publication statusPublished - 2009 Nov 1
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes