Lysosomal acid alpha-glucosidase

Name: Lysosomal acid alpha-glucosidase
Brand: Synevo
SKU: global_721428

The blood test measures the level of the enzyme acid alpha-glucosidase, whose deficiencyór is associated with Pompe disease (glycogenosis type II), a genetically determined storage disease.

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Test description
Documents

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