Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.30, sa.8, ss.889-892, 2017 (SCI-Expanded, Scopus)
- 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.