[MIM 612 541]

Very rare: < 1/106. Autosomal recessive transmission of a mutation of the  G6PC3 gene on 17q21. This gene encodes for the subunit 3 of the ubiquitous glucose-6-phosphatase. Other mutations in this gene cause congenital neutropenia type 4.

Association of:

-         pulmonary arterial hypertension

-         cardiac malformation: mostly ASD of the ostium secundum type

-         leukopenia (sometimes anemia or intermittent thrombopenia)

-        a very apparent peripheral venous network

Sometimes: pectus carinatum, long fingers and thumbs in proximal position, arched or cleft palate.

High sensitivity to infections.

Anesthetic implications:

check leukocytes, platelets, red blood cells; echocardiography; antibiotic prophylaxis.

References : 

-        Banka S, Newman WG, Ozgul RK, Dursun A. 
Mutations in the G6PC3 gene causes Dursun syndrome. 
Am J Med Genet (2010): part A, 152: 2609-11. -

-        Banka S, Newman WG.
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Orphanet J Rare diseases 2013; 8: 84.

Updated: June 2019