SLC37A4‐CDG: Second patient. Issue 1 (6th January 2021)

• Record Type: Journal Article
• Authors: Wilson, Matthew P.; Quelhas, Dulce; Leão‐Teles, Elisa; Sturiale, Luisa; Rymen, Daisy; Keldermans, Liesbeth; Race, Valérie; Souche, Erika; Rodrigues, Esmeralda; Campos, Teresa; Van Schaftingen, Emile; Foulquier, François; Garozzo, Domenico; Matthijs, Gert; Jaeken, Jaak
• Is Part Of: JIMD reports. Volume 58:Issue 1(2021)
• Page Start: 122
• Page End: 128
• Publication Date: 2021-01-06
• Subjects: CDG -- G6PT1 -- glycogen storage disease -- glycosylation -- hepatopathy -- SLC37A4; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12195
• Languages: English
• ISSNs: 2192-8304

Abstract

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.