Article

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency

2024-05-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> G6PC3 deficiency is a rare genetic disorder that causes syndromic congenital neutropenia. It is driven by the intracellular accumulation of a metabolite named 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) that inhibits glycolysis. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. <h4>Objective</h4> The G6PC3 c.210delC variant ha...

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Literature Corpus work: 718e5af5-8dc2-5fa0-a711-e89ee321678b
DOI: 10.1101/2024.05.13.24307299

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