This is a rare hereditary disease first discovered by the French doctor Philippe Charles Ernest Gaucher, this unusual disease is related to metabolism.
When the metabolism presents any disturbance, it is when hereditary diseases such as Gaucher's originate, which is the disorder of the gene that is responsible for making a special enzyme, enzymes are very useful proteins for carrying out the metabolism found in the body of the person, enzymes are responsible for transforming food properly, however, if by chance the food is not metabolized, it could accumulate within the body generating various symptoms. This disease is included in the group of lipids, which are conditions in which the metabolism of fatty acids is affected.
Over time, the excessive accumulation of fat can cause serious damage to cells and tissues, the organs that could be affected are the brain, liver, blood vessel, bone marrow, and the peripheral nervous system. This disease is a hereditary condition that affects 1 in every 20 thousand people without distinction of race. Healthy people contain the enzyme glucocerebrosidase which is located in the lysosomes and is responsible for transforming the glucocerebroside compound into glucose and a fat called caramide.
People with the disease lack the enzyme glucocerebrosidase which implies that they cannot transform the glucocerebroside which accumulates within the lysosomes making the normal function of macrophages impossible, these accumulated glycocerebrosidase enlarge and are what we call Gaucher cells. This disease can present or be classified into three types: Type 1 Gaucher disease, which is the most frequent, is considered non-neuronopathic since it does not affect the nervous system, it is characterized by presenting varied symptoms, which can occur in people of any age. Type 2 disease, also called acute neuronopathic form, is a rare form of the condition and is characterized by affecting the brain quickly and very severely, it usually occurs in infants under two years of age, who are the most likely to die from this disease.
Disease type 3 or acute neuronopathic, also characterized by infrequent and slow progress to the neurological. Among the most frequent symptoms is a decrease in platelets, anemia, osteoporosis, abdominal growth, growth retardation, among others.
