Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation

Sahin N. M., Bilici M. E., Kurnaz E., Akdogan M. P., Ceylaner S., AYCAN Z.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.30, sa.8, ss.889-892, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 8
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1515/jpem-2016-0315
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.889-892
  • Anahtar Kelimeler: PEX7 gene mutation, phytanic acid, rhizomelic chondrodysplasia punctata, DISORDERS
  • Ankara Üniversitesi Adresli: Hayır

Özet

Background: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type.