Literature DB >> 33728255

SLC37A4-CDG: Second patient.

Matthew P Wilson1, Dulce Quelhas2, Elisa Leão-Teles3, Luisa Sturiale4, Daisy Rymen5, Liesbeth Keldermans1, Valérie Race1, Erika Souche1, Esmeralda Rodrigues3, Teresa Campos3, Emile Van Schaftingen6, François Foulquier7, Domenico Garozzo4, Gert Matthijs1, Jaak Jaeken5.   

Abstract

Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose-6-phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type II (SLC37A4-CDG). Only one patient has been reported showing liver disease that improved with age and mild dysmorphism. Here we report the second patient with a type II CDG caused by the same heterozygous de novo c.1267C>T (p.R423*) mutation thereby confirming the pathogenicity of this variant and expanding the clinical picture with type 1 diabetes, severe scoliosis, and membranoproliferative glomerulonephritis. Additional clinical and biochemical data provide further insight into the mechanism and prognosis of SLC37A4-CDG.
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

Entities:  

Keywords:  CDG; G6PT1; SLC37A4; glycogen storage disease; glycosylation; hepatopathy

Year:  2021        PMID： 33728255      PMCID： PMC7932867          DOI： 10.1002/jmd2.12195

Source DB:  PubMed          Journal:  JIMD Rep        ISSN： 2192-8304


  15 in total

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4.  Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.

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6.  Mammalian N-glycan branching protects against innate immune self-recognition and inflammation in autoimmune disease pathogenesis.

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Review 8.  Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.

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2.  CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.

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3.  SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.

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