Lysosomal Storage Diseases
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Introduction
Lysosomes are little enzymes packages. They have enclosed the sac of enzymes existing in the cytosol of the cytoplasm of the eukaryotic cell. Lack of proteins in the body decreases the chances of a breakdown. When digestion and waste removal does not take place, the cells in the body build up hence damaging cells and organs in the body. According to clinical aspects in Endocrinology, lysosomal storage diseases are a group of inherited abnormal disorders. That characterizes imaging by comparing dysostosis. Most Lysosomal conditions (LSDs) are a result of a lack of enzymes. They all get worse with time (Byrne et al.,2012). Lysosomes are vital in macromolecule metabolism.
Consequently, many disorders are individually diagnosed and mostly present in childhood and at the infancy stage. Features include delay in development, blindness, dementia, and movement disorders. On the other hand, some people with lysosomal storage diseases have enlargement in different organs of the body, causing cardiac problems and bones that grow abnormally. Furthermore, the most common storage diseases and disorders are Hunter syndrome, Tay Sachs, Pompe, Fabry. And Glycogen storage disease. In this review, we shall focus on these aspects of lysosomal storage diseases, signs, and symptoms, causes, standard therapies, investigation therapies, and summarize areas of research that are bearing promising results for the future.
Literature Review.
Causes.
The absence of enzymes results in an error in metabolism. They are hence leading to deficiency. Most lysosomal storage diseases are inherited. For example, (LSDs)can be classified by pointing out the protein responsible for creating a build-up. The Niemann Pick disease, type C1, has a defect in transmembrane protein and deficient in NPC1. Without the NPC1 genes, proteins cannot exist in the lysosome’s cells. Comparatively, Tay-Sachs disease protein defects include lysosome enzymes, though there is various protein deficiency. Deficiency in a single enzyme is dangerous because lysosomal dysfunction occurs through these Lysosomes’. The disease was a link to enzyme deficiency and storage disorder. However, physicians discovered that most disorders were as a result of cell signaling mechanisms (Vellodi, 2005). The majority of these diseases occur as a result of macromolecules accumulation. Another important observation was the degree of acidity differs in enzymes and endosomes, thus leading to a calcium response. Inborn errors in metabolic reactions are the cause of most lysosomes’ diseases. Genetic and epigenetic factors play a significant role, consequently.
Signs and Symptoms.
Symptoms vary according to the type of Lysosomal Disorder. Each disease affects a particular enzyme, thus variation in traits. For example, patients diagnosed with Fabry disease cannot make enzymes that break down a fatty substance called globotriaosylceramide. The protein is essential because, without it, fat builds up, causing damaged cells. Symptoms include fever, red or purple skin sores, and body aches, among others.
Additionally, Gaucher disease is caused by a lack of glucocerebrosidase, without the enzyme, fatty substances build up in the liver and bone marrow. The disease appears in three types with different symptoms with symptoms such as eye problems, enlarged spleen, and liver, low red blood cell count, fatigue, and seizure. Lysosomal symptoms can be affected by other variables such as age and environment. According to Wenger et al., about 500-800 people are born with lysosomal storage disease disorders in the United States of America. Some of the confusion results in non-neurologic symptoms, while others are carriers of neurologic symptoms (2003). Signs and symptoms differ from naturally occurring compounds. Disorder variability can depend on macromolecule reactions. However, another storage disease like Krabbe affects the nervous system. The diagnosis of symptoms happens within the early months of birth, a therapeutic point, a lack of enzymes in the body causes this rare disease. Through clinical manifestation, affected children develop phenotypic, similar to its genotype.
Standard Therapy and Treatment
Estrogen replacement therapy is an essential treatment in lysosomal storage diseases (LSDs). The approach involves infusion of human recombinant enzymes that requires production and purification on a large scale and different sources from an organism’s DNA technique. For instance, ERT treatment is available for some LSDs disorders such as Pompe, Fabry, and Gaucher diseases’ treatment speeds up the concentration of deficient enzymes. Notably, the procedure does not cure the underlying defects caused by genetics. The department of Development Medicine and child neurology in The Royal College of Physicians asserts that the number of treatments for patients with LSDs has increased over the years. But the efficacy of Hematopoietic stem cell transplantation and enzyme replacement therapy is currently practical. The recent development of innovative treatment has marked significant progress. The enzyme replacement treatment was rendered successful. But it has significant challenges, such as the biodistribution of recombinant lysosomes and high cost (Parenti,2009). Limitations in the enzyme’s replacement treatment identified through clinical manifestations.
Moreover, A new procedure for the treatment of lysosomal storage diseases was approved. Pharmacological chaperone therapy (PCT) has proved to be effective. The treatment improves the stability of lysosomes through the use of chaperone molecules. When molecules interact with mutating enzymes, the environment conforms hence enhancing security.
Methodology.
Different disciplines and theoretical approaches influence the qualitative research approach. (Woods, 2006). In answering the given research question. Qualitative methods would be more viable in improving the evaluation and integration of data. Qualitative research allows the researcher to analyze deeply by considering different factors such as attitudes, behavior, and feelings, thus encouraging openness between the researcher, patients, and caregivers of persons suffering from lysosomal storage diseases.
References
Byrne, B. J., Falk, D. J., Clément, N., & Mah, C. S. (2012). Gene therapy approaches for lysosomal storage disease: next-generation treatment. Human gene therapy, 23(8), 808-815.
Parenti, G. (2009). Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO molecular medicine, 1(5), 268-279.
Vellodi, A. (2005). Lysosomal storage disorders. British journal of haematology, 128(4), 413-431.
Wenger, D. A., Coppola, S., & Liu, S. L. (2003). Insights into the diagnosis and treatment of lysosomal storage diseases. Archives of neurology, 60(3), 322-328.
Woods, P. (2006). Successful writing for qualitative researchers. Psychology Press.