UDK  616-008.9-056.7                       

ISSN 2466-2992 (Online) (2021) br.1, p. 15-22

COBISS.SR-ID 46921993


Milan Elenkov1, Dragan Mitić1, Dušica Janković2, Ivana Ilić2, Saša Ignjatijević2, Tatjana Mićić2

1General Hospital Pirot, Serbia, 2Emergency Medicine Service Nis, Serbia


INTRODUCTION: Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. Pompe disease occurs in various populations and ethnic groups around the world. Estimated incidences in those of European origin, however, are lower and range from 1 in 100,000 to 1 in 200,000.

DATA SOURCE AND THE CHOICE OF MATERIAL: A Retrospective analysis of literature with determinants: Pompe Disease. The search was carried out through: PubMed, Medline and electronic journals available through KoBSON as well as literatures available at the Library of the Medical Faculty in Niš

RESULTS OF THE SYNTHESIS: Pompe disease belongs to a group of diseases known as the ‘lysosomal storage disorders’ (LSDs) as an autosomal recessive genetic trait. Because of the shortage of this protein (an enzyme) a complex sugar ‘glycogen’ cannot be degraded to a simple sugar like glucose. This causes the glycogen to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function. It usually presents within the first three months of life with rapidly progressive muscle weakness (floppy infants), hypotonia, respiratory insufficiency, hypertrophic cardiomyopathy, mainly the left chamber and the wall between the left and right chamber resulting in diminished cardiac function. These problems together culminate in cardio-respiratory failure within the first 2 years of life. Diagnosis is made by assesment of: clinical evaluation of presenting symptoms, chest x-rays, ECHO, ECG, Laboratory: elevated creatine kinase, alanine aminotransferase, aspartate aminotransferase, lysosomal enzyme acid alpha-glucosidase activity and confirmatory testing of molecular genetic profile. Enzyme replacement therapy is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid α-glucosidase. Some patients may need respiratory assistance through mechanical ventilation.

CONCLUSION: Pompe disease is an inherited disorder caused by the buildup of a complex sugar glycogen in the body's cells caused by a genetic mutation.

Key words: Pompe disease, glycogen, lysosomes, rare disease




General Hospital Pirot

e-mail: melenkov80@gmail.com

Issue 2021-1- article 2



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