Pompe’s disease, infantile form

Abstract

Pompe’s disease (PD), or type II glycogenosis, – is an autosomal-recessive disease relating to accumulation of the glycogen in the lysosomes of tissues of different organs. PD is a rare enough disease, and this complicates its timely diagnostics and significantly reduces efficiency of the treatment. Below we give description of clinical event of the infantile form of the Pompe’s disease. The special attention is paid to diversity of the clinical presentation, to necessity of the modern diagnosing and improvement of outcome of the disease by conduction of enzyme-substitution therapy (EST).