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

COŞKUN T., Aydin H. I., KILIÇ M., DURSUN A., Haliloglu G., Topaloglu H., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.51, no.6, pp.587-592, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 6
  • Publication Date: 2009
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.587-592
  • Hacettepe University Affiliated: Yes

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.