Gaucher Disease Research

Gaucher disease is a metabolic genetic disorder characterized by way of excess deposition of glucocerebroside in the cells and particular organs. While the sickness is rare across the globe, it is deadly in individuals suffering from it. The symptoms and symptoms of Gaucher disease fluctuate broadly among the patients. It has been classified into several types based totally on the patients’ distinctive features. The article focuses on the cause of the extraordinary type of Gaucher disease as a metabolic disorder.
The ailment typically manifests with many distinctive scientific signs and symptoms subsequently the categorization into three subtypes based on the rate of development and the lack or presence of neurological involvement. Type 1 Gaucher disease has no neurological involvement while both type 2 and 3 are neuronopathic (Stirnamm, Belmatong and Camou 67). However, the signs of type two progress quickly while type three is chronic. Patients suffering from type one Gaucher are typically anemic, express chronic fatigue, liver disorder, pathological fractures and typically many bruises. Type 2 Gaucher disease, on the other hand, manifests at birth or infancy characterized by severe symptoms including seizures, high pitched sound when breathing and organomegaly. Type three patients present continued neurological involvement in addition to organomegaly (Hamed, Nalysnyk and Tilimo 61). Moreover, some cases do not fit into any particular category. The diagnosis of Gaucher disease involves measuring the level of glucocerebrosidase activity which fifteen percent less than the mean standard indicates a presence of the Gaucher cells.

All the types of this genetic disorder are autosomal recessively inherited. Gaucher disease is a result of mutations in the GBA gene. As such, parents are capable of passing a faulty GBA gene to their children even when they are not suffering from Gaucher disease. In the body, the GBA gene has the responsibility of providing instructions for the provision of an enzyme known as beta-glucocerebrosidase. In normal circumstances, the enzyme processes a fatty acid known as glucocerebroside into sugar and a reduced fat molecule known as ceramide (Stirnamm, Belmatong and Camou 71). However, in individuals suffering from Gaucher disease, mutations excessively affect the production of beta-glucocerebrosidase. That leads to the clumping of glucocerebroside in the body cells and specific organs depending on the type of Gaucher Disease. Gaucher is a lipid storage disease considering its characterization with the deficiency of a particular enzyme. Glucosylceramide, the excessive glycolipid in the body, typically leads to the development of Gaucher cells.

Gaucher cells get engorged with lipid with a crumpled look and displaced nuclei appearance. Research suggests neurological involvement in type two and three patients may have an association to amassing of glucosylceramide in the brain due to extreme deficiency of glucocerebrosidase production or neuroinflammation (Cappelini).

Glucosylceramide builds up in the liver, spleen, lungs among other parts of the body results to pancytopenia and may spread infiltrative pulmonary diseases. The increase in Gaucher cells in the bone marrow contributes to pathological fractures and bone pain. The disruption of ceramide to glucose rate prevailing in Gaucher patients results to barrier development in the epidermal layer of the skin. Eventually, it leads to collodion skin presentation in patients hugely affected by type two Gaucher.

The disease has no cure. However, Enzyme replacement therapy (ERT) is recommended to individuals who suffer from type one and three Gaucher. ERT shrinks enlarged liver and reduces anemia. Moreover, an oral glucosylceramide inhibitor reduces the occurrence of the symptoms and the rate of progress. The mortality and morbidity of the disease vary in patients depending on the type. However, statistics indicate the lack of cure results to many deaths in individuals affected by type two Gaucher.

Works Cited

Cappelini, M D. “Metabolic disorders granular disease.” Oncology aspects (2015).

Hamed, Alaa, et al. “A conceptual framework of patient-reported outcomes for type 3 Gaucher disease.” Molecular Genetics and Metabolism 120.1 (2017): 61.

Stirnamm, Jerome, Nadia Belmatong and Fabrice Camou. “A Review of Gaucher Disease pathophysiology, clinal presentations and treatments .” Internation Journal of Molecular sciences (n.d.).