Glycogenosis type I or Von Gierke's disease, was discovered by German physician Gierke, who studied an 8-year-old girl with chronic increase in liver size.
Patients with type I glycogenosis may be classified into various subtypes, with the most common belonging to those who lack the glucose 6-phosphatase enzyme per se, or Von Gierke's disease (Type I a) (5).
Overproduction of purine and hyperuricemia in Von Gierke's disease are secondary effects to the greater generation of the PRPP precursor, ribose-5-phosphate.
In their study report, the researchers have revealed that the symptoms they observed in the animal subjects resembled those of children born with Von Gierke's disease
, a disorder that can create serious problems unless it is recognized early.