Creatine kinase and lactate dehydrogenase in type 2 glycogenosis (Pompe disease)

At least three varieties of type 2 glycogenosis (Pompe disease) have been described, the most severe of which is an infantile form. The relationship between clinical manifestations, glycogen accumulation, and tissue damage has not been established. Serum levels of creatine kinase (CK [EC 2.7.3.2 adenosine triphosphate:creatine phosphotransferase]) lactate dehydrogenase (LDH [EC 1.1.1.27 L-lactate:NAD oxidoreductase]) and their isoenzyme fractions were used to identify and monitor myocardial damage in this study of an infant with type 2 glycogenosis diagnosed by light microscopy and tissue enzyme assay.