What is Gaucher disease? »Its Definition and Meaning [2019]

This is a rare disease of a hereditary nature first discovered by the French-born physician Philippe Charles Ernest Gaucher, this unusual disease is related to metabolism.

When the metabolism presents some disturbance is when hereditary diseases such as Gaucher originate, which is the disorder of the gene that is responsible for making a special enzyme , the enzymes are proteins very useful for the performance of the metabolism found in the body of the person, enzymes are responsible for transforming food properly, however, if by chance the food was 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 fats can cause serious injuries in the cells and tissues, the organs that could be affected are the brain, liver, vessel, medulla Bone, and the peripheral nervous system.This disease is a hereditary condition that affects 1 in 20,000 people regardless of race.The people who are healthy contain the enzyme glucocerebrosidase which is located in the lysosomes and is responsible for transform the glucocerebroside compound into glucose and a fat called caramida.

People with the disease lack the glucocerebrosidase enzyme which means that it does not they can transform the glucocerebroside which accumulates inside the lysosomes making it impossible for the normal function of macrophages, these accumulated glucocerebrocides are enlarged and this is what we call Gaucher cells.It can occur or be classified into three types: Gaucher disease type 1 , which is the most frequent, is considered non-neuronopathic because it does not affect the nervous system, it is characterized by presenting Varied symptoms , which can occur in people at any age. type 2 disease, also called acute neuronopathic form, is an uncommon form of the condition and is characterized in that it affects the brain quickly and very severely, it usually occurs in infants under two years of age, which are the most likely to die from this disease.

The disease type 3 or acute neuronopathic, it is also characterized by being infrequent and with slow progress to the neurological type.Among the most frequent symptoms is the decrease in platelets, anemia, osteoporosis , growth of the abdomen, growth retardation, among others.