Molecular diagnosis of glycogen storage disease type I

The term “glycogen storage disease” (GSD) refers to a group of disorders characterized by genetically determined errors of glycogen metabolism. Twenty-three types of GSD are currently recognized, covering a broad clinical spectrum involving different organs; however, the liver, skeletal muscle, heart, and sometimes the central nervous system are those most commonly affected. They are classified depending on the organ affected and the enzyme deficiency involved. GSD types I, III, VI and XI account for 80% of hepatic GSD.

If the physician could point to one specific gene based on clinical manifestations, then a specific one-gene molecular genetic test can be performed. Laboratory for molecular biomedicine conducts complete analysis of G6PC (GSD type Ia) and SLC37A4 (GSD type Ib) genes.

Alternatively, the simultaneous analysis of both genes responsible for GSD type I or all genes responsible for different types of GSDs (AGL, ALDOA, ENO3, G6PC, GAA, GBE1, LDHA, GYG1, GYS1, GYS2, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PYGL, PYGM, SLC37A4, SLC2A2) could be applied to speed up the diagnostic process (

It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 15 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

For payment instructions, please contact us.


dr Maja Stojiljković

dr Sonja Pavlović

Tel: +381 11 3976 445

Mob: +381 65 3976 445

Fax: +381 11 3975 808


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