enzimpótló

Enzimpótló, or enzyme replacement therapy (ERT), refers to medical treatments that supplement or replace deficient or absent enzymes with exogenous ones. The approach can be systemic, delivering enzymes to cells and lysosomes, or digestive, supplying enzymes to the gut to aid digestion.

In systemic ERT, recombinant enzymes are given by intravenous infusion to treat conditions caused by deficient lysosomal enzymes. This includes lysosomal storage diseases such as Pompe disease (acid alpha-glucosidase deficiency), Gaucher disease, Fabry disease, and Hurler syndrome (MPS I). Examples include alglucosidase alfa for Pompe disease, imiglucerase or velaglucerase alfa for Gaucher disease, agalsidase alfa or beta for Fabry disease, and laronidase for MPS I. The goal is to restore enzymatic activity within lysosomes and reduce substrate accumulation.

Digestive enzyme replacement therapy is used for exocrine pancreatic insufficiency due to conditions like cystic fibrosis, chronic pancreatitis, or after certain surgeries. Pancreatic enzymes (lipase, protease, amylase) are formulated in enteric-coated microspheres and taken orally with meals to aid fat, protein, and carbohydrate digestion.

Mechanism-wise, systemic enzymes are internalized by cells via mannose-6-phosphate receptors and trafficked to lysosomes, where they catalyze substrate breakdown. Digestive enzymes act in the intestinal lumen, facilitating hydrolysis of dietary components.

Administration and monitoring vary by indication. Systemic ERT is typically given at regular intervals (often weekly or every other week) and requires monitoring of clinical response and biomarkers; digestive enzymes are dosed by weight and meal content, with monitoring of gastrointestinal symptoms and nutritional status. Potential adverse effects include infusion reactions and antibody development for systemic ERT, and gastrointestinal side effects for digestive enzymes.