Laboratory studies and Pompe disease: from suspicion to therapy monitoring

Abstract

Pompe disease (PD) is a rare, progressive, commonly fatal inherited autosomal recessive disease that is difficult to diagnose due to its obvious clinical heterogeneity and low awareness among physicians. Access to the laboratory diagnosis of rare diseases increases every year. In the past several years, Russian and foreign laboratories have achieved considerable success in accelerating and improving the diagnostic accuracy of PD. Unfortunately, the Russian-language literature contains scarce relevant information on the laboratory diagnosis of PD. This review is to fill up this gap.

Keywords

• pompe disease
• limb-girdle muscular dystrophy
• gaa gene
• rare diseases laboratory diagnosis
• glycogenesis type ii
• lysosomal storage diseases
• next generation sequencing
• creatine kinase
• dry blood spot
• cross-reactive immunological material
• anti-α-glucosidase antibodies
• orphan diseases