A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.

Background: Type 3 glycogen storage disease is an inborn error of metabolism in young infants that often requires extensive workup. However, this disease manifests with few symptoms other than hepatosplenomegaly. At adolescence, this disease may cause myopathy and cardiomyopathy. Since a significant portion of referrals to pediatrics is for evaluation of a hepatosplenomegaly, the differential diagnosis of this disease assumes importance.

Methods: The clinical and biochemical findings in 26 patients with the type 3 glycogen storage disease were investigated. Biochemical parameters included ALT, AST, total CK and CK-MB.

Results: Changes in ALT, AST and total CK were observed to varying degrees. However, CK was found to be a diagnostic indicator for type 3 glycogen storage disease and appears to be a pathognomic marker.

Conclusions: Use of CK may reduce the need for extensive diagnostic profiles and aid in the rapid identification and initiation of management for patients presenting with hepatosplenomegaly.