TMEM165 Deficiency: Postnatal Changes in Glycosylation

  • S Schulte Althoff
  • M Grüneberg
  • J Reunert
  • J H Park
  • S Rust
  • C Mühlhausen
  • Y Wada
  • R Santer
  • T Marquardt

Abstract

Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement. Having confirmed the diagnosis via prenatal diagnostics, we were able to observe the glycosylation right from birth, finding a pathological pattern already on the first day of life. Within the next few weeks, hypoglycosylation progressed to less sialylated and then also to hypogalactosylated isoforms. On the whole, there has not been much published evidence concerning postnatal glycosylation and its adaptational process. This is the first paper reporting changes in glycosylation patterns over the first postnatal weeks in TMEM165-CDG.

Bibliografische Daten

OriginalspracheEnglisch
TitelJIMD Reports
ERFORDERLICH bei Buchbeitrag: Seitenumfang9
Band26
Herausgeber (Verlag)Springer
Erscheinungsdatum2016
Auflage1
Seiten21-29
ISBN (Print)978-3-662-49832-3
ISBN (elektronisch)978-3-662-49833-0
DOIs
StatusVeröffentlicht - 2016
PubMed 26238249