Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

摘要: Pompe disease (OMIM 232300), a glycogen storage disorder caused by deficiency in the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.20), results weakness and cardiomyopathy infants affected with classic form. Although primary manifestations are due to accumulation skeletal cardiac muscle, also accumulates variety of additional tissues. To improve our understanding pathogenesis long-term survivors, we reviewed postmortem for three form disease. We have observed number new complications survivors infantile-onset disease, focused this study on pathological correlates. Findings include arrhythmias, which may be related conduction tissue; urinary incontinence, likely smooth muscle; refractory errors, possibly ocular structures. These observations provide potential pathophysiologic correlates infantile