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., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.51, sa.6, ss.587-592, 2009 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 6
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.587-592
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.