Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

Paketci C., Edem P., Hiz S., Sonmezler E., Soydemir D., Uzan G., ...More

BRAIN & DEVELOPMENT, vol.42, no.7, pp.539-545, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 7
  • Publication Date: 2020
  • Doi Number: 10.1016/j.braindev.2020.04.008
  • Journal Name: BRAIN & DEVELOPMENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
  • Page Numbers: pp.539-545
  • Keywords: ALG3, Congenital disorders of glycosylation, Developmental delay, Hemangioma, Intractable epilepsy, Ketogenic diet, DEFICIENT GLYCOPROTEIN SYNDROME, CONGENITAL DISORDER, 2 SIBLINGS, GLYCOSYLATION, FEATURES
  • Dokuz Eylül University Affiliated: Yes

Abstract

Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.