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Novel Mutation of Slc37a4 in a Glycogen Storage Disease Type Ib Patient With Neutropenia, Horseshoe Kidney, and Arteriovenous Malformation: A Case Report Publisher Pubmed



Meimand SE1, 2 ; Azizi G3 ; Yazdani R2, 4, 5 ; Sanadgol N2, 6 ; Rezaei N1, 2, 7
Authors
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Authors Affiliations
  1. 1. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Dr. Qarib St, Keshavarz Blvd, Tehran, 14194, Iran
  3. 3. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  4. 4. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  5. 5. Department of Neurology, Thomas Jefferson University, Philadelphia, PA, United States
  6. 6. School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  7. 7. Network of Immunity in Infection, Malignancy and Autoimmunity, Universal Scientific Education and Research Network, Tehran, Iran

Source: Immunologic Research Published:2023


Abstract

Glycogen storage disease type Ib (GSDIb) is an autosomal recessive disorder caused by mutations of SLC37A4 gene, which encodes glucose 6-phosphate translocase (G6PT). Malfunction of G6PT leads to excessive fat and glycogen in liver, kidney, and intestinal mucosa. The clinical manifestations of GSD1b include hepatomegaly, renomegaly, neutropenia, hypoglycemia, and lactic acidosis. Furthermore, the disorder may result in severe complications in long-term including inflammatory bowel disease (IBD), hepatocellular adenomas (HCA), short stature, and autoimmune disorders, which stem from neutropenia and neutrophil dysfunction. Here, we represent a novel mutation of SLC37A4 in a 5-month girl who has a history of hospitalizations several times due to recurrent infection and her early presentations were failure to thrive and tachypnea. Further investigations revealed mild atrial septal defect, mild arteriovenous malformation from left lung, esophageal reflux, Horseshoe kidney, and urinary reflux in this patient. Moreover, the lab tests showed neutropenia, immunoglobulin (Ig) G and IgA deficiency, as well as thrombocytosis. Whole exome sequencing revealed c.1245G > A P.W415 homozygous mutation in SLC37A4 gene and c.580G > A p.V1941 heterozygous mutation in PIK3CD gene. This study shows that manifestations of GSD1b may not be limited to what was previously known and it should be considered in a wider range of patients. © 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.