Things To Know

Pompe Disease is unique among genetic metabolism disorders as it is classified as both a Glycogen Storage Disease AND a Lysosomal Storage Disease. Glycogen Storage Diseases are characterized by an inability to make, use or break down glycogen. (see below for further info on glucose and glycogen) Lysosomal Storage Diseases are those that have a problem with a specific structure within the body’s cells called a lysosome. Lysosomes contain digestive enzymes used to break down complex molecules, turning large, unusable molecules into smaller, manageable ones. For example, lysosomes provide fuel for the cells of the body by breaking down complex “food” molecules into smaller components the cells can use for energy. They can also serve as recycling and waste disposal systems, digesting unwanted debris within the cell, a process called autophagy. Pompe Disease is due to an abnormal enzyme within the lysosome that breaks down glycogen. (making Pompe Disease a Lysosomal Storage Disease and a Glycogen Storage Disease) All the symptoms associated with Pompe Disease (heart failure, respiratory problems, muscle weakness, etc.) are due to the build-up of glycogen within the cells and organs of the body. Combined with an ineffective lysosome, glycogen, and cellular “debris” accumulate, leading to cell and organ dysfunction.

The cells in the body require fuel, and at the most basic level, that fuel is usually either one of two things: glucose or ketones. Glycogen is simply a chain of glucose molecules that the body has stored in various tissues and organs for later use. The main source of glucose is diet, specifically carbohydrates and sugar (technically sugar is a carbohydrate, see our list below for various pseudonyms for sugar used by the food industry). The body can make it’s own glucose, a process called gluconeogenesis. All carbohydrates from pasta or refined sugar are ultimately broken down by the body into glucose. This glucose will either be used immediately or stored for later in the form of glycogen. There are many hormones that regulate the complex process of telling the body when to store glucose as glycogen, but the most important is insulin. Insulin is released for a variety of reasons, but the most common is an increase in the amount of circulating glucose in the blood stream. Such as immediately after a heavy carbohydrate meal. When glucose is plentiful after a meal it is stored for later as glycogen. This glycogen will be used when glucose is not plentiful. In summary, a meal heavy with carbohydrates will result in an increase in circulating glucose. Triggering an increase in insulin. Which results in glucose being stored in the tissue as glycogen. For most people this is not a problem. For those that have a problem in their lysosomes disposing of that glycogen, like those with Pompe Disease and other Glycogen Storage Diseases, this process can have disastrous effects.

Ketones (or ketone bodies) are another source of fuel the body can run on when glucose supplies are low. The liver makes ketones from fatty acids. These ketones are made from fat you eat or stored fat within your body. When glucose is low, hormones in the body tell the liver to start converting fat into ketone bodies for fuel. This process is commonly referred to as ketosis.

A diet high in fat or fiber, with adequate protein and low amounts of carbohydrates, produces ketones and is commonly referred to as a ketogenic diet. The ketogenic diet helps maintain the body in a state of ketosis. Some people use the ketogenic diet as a way to burn fat or lose weight. For those with Pompe Disease, the ketogenic diet may help with the build-up of lysosomes stuck on glycogen molecules.

Autophagy is a process the body has to help clean our cells. The Lysosome is the main mechanism for the cleaning of the cell, but it is not perfect and, in fact, misses a lot. This is where the autophagic process comes in. It gathers all the things the lysosome misses and gets rid of them. This process is very important if you have a Lysosomal Storage Disease (LSD) because your Lysosome is stuck on a particular molecule and can’t get to all the other debris in the cell, which is the real problem. If you have a LSD, your autophagy process is more than likely not working correctly, and one of those reasons is we do not do the things needed to turn it on. If carbohydrates and sugar is your base fuel, you have a set of hormones turned on that keep autophagy from working. If you change your diet to run on ketones, you turn on the hormones that activate the autophagic process; this is good! This is good not just for people with LSD’s but for all of us.