Acid alpha glucosidase [Enzymatic activity/volume] in DBS

Acid A-Glucosidase DBS-cCnc

Definition

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.

Acd; Acid A-Glucosidase; Acid maltase; Acids; Alfa; Alpha galactosidase; Alpha-1,4-glucosidase; Blood; Catalytic Concentration; Chemistry; DBS; Dried blood spot; Filter paper; FP; GAA; Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; Point in time; Pompe disease; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood