title: TMEM165 Deficiency: Postnatal Changes in Glycosylation.
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.
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schulte Althoff
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Grüneberg
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Reunert
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany.
authors.forename: J H
authors.initials: JH
authors.lastname: Park
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Rust
authors.affiliation: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Mühlhausen
authors.affiliation: Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.affiliation: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Santer
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany. marquat@uni-muenster.de.
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
keywords: CDG; Congenital disorders of glycosylation; Glycosylation; Postnatal; TMEM165