Quoted from the National Gaucher Foundation (www.gaucherdisease.org)
So in English, quoted from the Children’s Gaucher Research Fund at http://www.childrensgaucher.org/about-gaucher/gaucher-basics/:
The Children’s Gaucher Research Fund also provides the following information. Text quoted from the Children’s Gaucher Research Fund at http://www.childrensgaucher.org/about-gaucher/gaucher-basics/:
What are Gaucher Cells?
The human body contains specialized cells called macrophages that remove worn-out cells by degrading them into simple molecules for recycling. This process is analogous to eating and digesting food. The macrophages “eat” worn-out cells and degrade them inside cell compartments called lysosomes that serve as the “digestive tracts” of cells. The enzyme glucocerebrosidase (pronounced “gloo-ko-ser-e-bro-si-dase”) is located within the lysosomes and is responsible for breaking down glucocerebroside into glucose and a fat called ceramide.
People with Gaucher Disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebriside. Instead, the glucocerebroside remains stored within the lysosomes preventing the macrophages from functioning normally. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. This is why Gaucher Disease is often referred to as a “storage disease”. Because the enzyme is not working properly, these undigested cells are “stored,” and accumulate in various parts of the body.
What Happens When Gaucher Cells AccumulateGaucher cells most often accumulate in the spleen, liver, and bone marrow. They may also collect in other tissues, including the lymphatic system, lungs, skin, eyes, kidney, and heart. Frequently, an organ that contains Gaucher cells becomes enlarged and does not function properly, resulting in clinical symptomsassociated with the disease. Providing there is no central nervous system (brain) involvement, Gaucher Disease is referred to as Gaucher Type 1. Individuals of all ages can be affected by Gaucher Disease Type 1.
Why Is Gaucher Disease Type 2 and Type 3 More Serious
In Type 2 and Type 3 Gaucher Disease symptoms generally appear in infancy, or early childhood. Unlike Type 1, the central nervous system (brain) is affected. This can manifest itself with abnormally slow eye movements, unsteadiness, swallowing problems, seizures, among other symptoms. Neurological involvement will range from minimal to severe involvement. Central nervous system involvement is significantly more debilitating, and in many cases, causes death.