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.
Bhuiyan
Jalaluddin
J
Department of Pathology and Laboratory Medicine, Section of Clinical Biochemistry, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al Odaib
Ali N
AN
Ozand
Pinar T
PT
D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000032:analysis; D001219:Aspartate Aminotransferases / Q000032:analysis; D009202:Cardiomyopathies / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis*; D003937:Diagnosis, Differential; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008099:Liver / Q000201:enzymology; D008297:Male
D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase