Alpha galactosidase A [Enzymatic activity/volume] in DBS

A-Galactosidase A DBS-cCnc

Definition

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.

A-Galactosidase A; Alfa; Alpha galactosidase; Alpha-D-galactosidase; Blood; Catalytic Concentration; Chemistry; DBS; Dried blood spot; Filter paper; FP; GM1-gangliosidosis; Morquio disease type B; MPS IV B; Point in time; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood