Ontology highlight
ABSTRACT:
SUBMITTER: Schulte Althoff S
PROVIDER: S-EPMC5580733 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Schulte Althoff S S Grüneberg M M Reunert J J Park J H JH Rust S S Mühlhausen C C Wada Y Y Santer R R Marquardt T T
JIMD reports 20150804
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 ri ...[more]