Note sull'episodio
Pompe disease, also known as Glycogen Storage Disease Type II (GSD-II), is a rare genetic condition where your body can't properly break down a complex sugar called glycogen. This happens because of a missing or faulty enzyme called acid alpha-glucosidase (GAA), which usually helps to break down glycogen inside your cells' "recycling centers" called lysosomes. When the enzyme isn't working right, glycogen builds up to harmful levels, especially in your muscles, including your heart, and nerve cells, damaging them and affecting how your body works
Parole chiave
Pompe disease, rare inherited disorder, glycogen, Infantile-onset, enlarged heart, hearing lose, ECG