Lysosomal acid alpha-glucosidase

Lysosomal acid alpha-glucosidase

Clinical significance

Lysosomal acid alpha-glucosidase - an enzyme involved in the breakdown of glycogen in lysosomes. Deficiencyór of the enzyme occurs in Pompe disease, glycogenosis type II. Due to mutations, the enzyme's function is impaired or reduced, resulting in the accumulation of glycogen in the lysosomes of skeletal muscle cells and heart muscle. The disease can manifest in infancy with non-specific symptoms of proximal myopathy (hemiparesis) and respiratory failure, or develop over many years. Diagnosis is based on genetic testing and determination of acid alpha-glucosidase.

Patient preparation

Material: Blood stain on tissue paper