Pompe disease is a rare metabolic disorder due to deficiency of the lysosomal acid alpha-glucosidase (GAA) that causes glycogen accumulation in all tissues with a predominant involvement of skeletal muscle.
Screening of the family using tandem mass spectrometry showed elevated lactic acid levels, glutaric aciduria, a mildly increased glutarylcarnitine-to-octanoylcarnitine ratio, and normal blood α-glucosidase, which was consistent with a respiratory chain complex 1 metabolic disorder.
H. scruglii and H. hircinum extracted in 70% ethanol strongly inhibited α-glucosidase (IC<sub>50</sub> 7.25 and 14.05μg/ml, respectively), which is a valuable enzymatic target for treating metabolic disorders, while H. perforatum was found to be less powerful than the other two species in all the performed biological tests.