2. Academic Validation
  3. SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

  • Mol Genet Metab Rep. 2020 Aug 21;25:100636. doi: 10.1016/j.ymgmr.2020.100636.
Thorsten Marquardt 1,  Vladimir Bzduch 2,  Max Hogrebe 1,  Stephan Rust 1,  Janine Reunert 1,  Marianne Grüneberg 1,  Julien Park 1,  Nico Callewaert 3,  Robin Lachmann 4,  Yoshinao Wada 5,  Thomas Engel 1
Affiliations

Affiliations

  • 1 University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • 2 Comenius University, National Institute of Children's Diseases, Department of Paediatrics, Limbová 1, 83340 Bratislava, Slovakia.
  • 3 Medical Biotechnology lab, Center for Medical Biotechnology, Technologiepark 71, B-9052 Gent-Zwijnaarde, Belgium.
  • 4 Charles Dent Metabolic Unit Box 92, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • 5 Osaka Women's and Children's Hospital, Osaka, Japan.
PMID: 32884905 DOI: 10.1016/j.ymgmr.2020.100636
Abstract

Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.

Keywords

CDG; Glycogen storage disease; Glycosylation; SLC37A4.

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