Publication details
Pompeho choroba
| Title in English | Pompe disease |
|---|---|
| Authors | |
| Year of publication | 2011 |
| Type | Article in Periodical |
| Magazine / Source | Medicína po promoci |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | Pompe disease; alfa-glucosidase deficiency; lysosomal storage disease; limb-girdle muscle weakness |
| Description | Pompe disease (glycogen storage disease type II, alfa-glucosidase deficiency) is an hereditary autosomal recessive metabolic disorder caused by defect of lysosomal acid alfa-glucosidase, leading to storage of lysosomal glycogen within cells and tissues. These tissues, especially myocardium and skeletal muscles, are rendered dysfunctional. The course of Pompe disease is very variable, ranging from severe and rapidly progressive form manifesting in newborns (classic infantile form) to gradually developing affliction manifesting during childhood or late adulthood. The classic infantile form of the disease develops in the presence of total on near total alfa-glucosidase dysfunction. The symptoms evolve during the first months of life, including poor general health, muscle weakness and breathing difficulties. The heart becomes markedly enlarged – most children thus affected did not live until their first birthday before the advent of enzyme replacement therapy. If the glycogen-breaking enzyme is at least partly functional, the so called late-onset (juvenile or adult) form of the disease ensues. This happens when one allele is afflicted by a severe mutation and the other allele by a milder one, resulting in less progressive phenotype. This form of the disease manifests between the first and the sixth decade of life. Progressive muscle weakness, eventually leading to marked dysfunction of respiratory muscles, is the main symptom. These patients typically do not suffer from heart enlargement. If Pompe disease is suspected, three diagnostic levels are available. The first consists of a screening “dry drop” test. The diagnosis is being confirmed by measurement of alfa-glucosidase activity in leukocytes. DNA testing is important for correlation between the genotype and phenotype and for detection of disease carriers within the family. |