Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency

J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e431-e433. doi: 10.1097/MPH.0000000000002237.


Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently identified form of congenital neutropenia associated with developmental anomalies. The severity of neutropenia and the clinical spectrum are highly variable. Aside from infectious complications and extrahematologic features, inflammatory bowel disease and autoinflammatory complications are less frequently observed manifestations. However, amyloidosis has never been reported in G6PC3 deficiency. Here, we present a 12-year-old patient with incidentally discovered neutropenia because of the p.E65A (c.194A>C) variant of the G6PC3 gene. He had recurrent aphthae and abdominal pain episodes, and developed nephrotic-range proteinuria, amyloidosis, and end-stage renal failure during follow-up.

Publication types

  • Case Reports

MeSH terms

  • Amyloidosis*
  • Child
  • Congenital Bone Marrow Failure Syndromes
  • Glucose-6-Phosphatase / genetics
  • Humans
  • Male
  • Neutropenia* / complications
  • Neutropenia* / congenital
  • Neutropenia* / genetics


  • Glucose-6-Phosphatase
  • G6PC3 protein, human

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3