Article
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
European journal of human genetics : EJHG - 1 Mar 2021
Niño Monica Y, Wijgerde Mark, de Faria Douglas Oliveira Soares, Hoogeveen-Westerveld Marianne, Bergsma Atze J, Broeders Mike, van der Beek Nadine A M E, van den Hout Hannerieke J M, van der Ploeg Ans T, Verheijen Frans W, Pijnappel W W M Pim
Abstract excerpt
Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset phenotypes. The biochemical diagnosis is based on GAA activity assays in dried blood spots, leukocytes, or fibroblasts. Diagnosis can be complicated by the existence of pseudodeficiencies, i.e., GAA variants that lower GAA activity but do...
Topics
- Cells, Cultured
- Clinical Enzyme Tests
- Dried Blood Spot Testing
- Fibroblasts
- Genetic Testing
- Glycogen Storage Disease Type II
- Humans
- Hymecromone
- Leukocytes
- Mutation
- alpha-Glucosidases