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

Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloğlu, Haluk Topaloğlu, Kader Karli-Oğuz, Tom J de Koning

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6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)587-592
Number of pages6
JournalThe Turkish journal of pediatrics
Issue number6
Publication statusPublished - 4-Mar-2010
Externally publishedYes


  • Deficiency Diseases
  • Dietary Supplements
  • Follow-Up Studies
  • Glycine
  • Humans
  • Infant
  • Male
  • Phosphoglycerate Dehydrogenase
  • Seizures
  • Serine
  • Case Reports
  • Journal Article

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