Types of Mucolipidoses Diseases - Research Paper Example

Mucolipidoses Diseases Mucolipidoses Diseases Introduction Mucolipidoses diseases (ML) refer to a number of inherent metabolic defects that interfere with the capability of the body to conduct ordinary conversion of certain material in the cells. What normally happens is that excess content of carbohydrates and lipids get stored in the body cells. The cells are incapable of maintaining excess amounts of the carbohydrates and lipids in the body. ML has far-reaching effects, for instance, young individuals with the defect suffer in terms of low mental capacities that leads to the children’s demise. Mucolipidoses diseases are a menace to the society. Types of Mucolipidoses Diseases There exist four types of Mucolipidoses Diseases namely Mucolipidosis types 1, 2, 3, and 4. Mucolipidosis Type 1 Mucolipidosis type 1 (ML 1) known as sialidosis occurs because of a deficiency in sialidase, a critical digestive enzyme. According to Smith, (2013) the rare disease is an inheritation of a defect involving storage by lysosomes. For the cells to function properly glycoproteins should be free from molecules that have sugar content. Sialidase in particular assists in removing sialic acid from forms of sugar proteins (Miedel, 2008). Due to the deficiency of the enzyme, results in molecular that resemble sugar settling in not only the cells but also the neurons and the bone marrow. The body of the individuals becomes incapable of fighting infections. The defect is quite similar to mucopolysaccharidoses. Mucolipidosis Type 2 and 3. Mucolipidosis 2 alpha or beta, is a disease that interferes with diverse body parts to the extent of killing the victims. Patients had some phase-dense intracytoplasmic content in the fibroblasts creating incusion in the cell (Vuong & Berry, 2002). Studies indicate that individuals with the defect do not make it to the teenage. Mucolipidosis type 3 is quite similar to Mucolipidosis type 2 in that it affects many body parts. Mucolipidosis type 3 involves a deficiency of N-acetylglucosamine-1-phosphotransferase (Smith, 2013). The enzyme is instrumental as it focuses on the carbohydrates in the glycoproteins. The absence of the enzyme makes the glycoproteins to get stored outside the lysosomes. Mucolipidosis Type 4 Type 4 results from autosomal and recessive genetic disorder. As part of the defects that involve the storage of components in the lysosomes, ML 4 entails the inability of body cells to manufacture enzymes necessary for breaking down various components (Agarwal & Gass, 2012). The body becomes unable to transfer lipids as well as other materials in the cells. This leads to the lipids to settling within the body as well as the cells (Miedel, 2008). Both the brain and the nervous system suffer because of the disease thereby reducing the life expectancy. Symptoms Mucolipidosis Type 1 The symptoms for ML 1 tend to show even before the infant is one year old. Among the symptoms is eyelids that are puffy, a nose that is flat, very thick lips as well as a big forehead. In addition, the individuals have an enlarged tongue and gums. Rayan & Upton illustrated that, as the disease continue to go in depth, victims experience a lessened muscular tone, shortness, poor joint movement, poor vision, deafness and stiff joints (2014). Other common conditions include poor limb movements that lead to unbalanced walking. As the children grow up, the systems become more significant and may make walking unbearable (Vuong & Berry, 2002). The effects have an impact on the education aspect as learning complications develop. In addition, diseases such as kidney disease and enlarged spleen may occur. Mucolipidosis Type 2 At a tender age, children experience some abnormalities in the bones and even a rounded back. The feet are round or rather, club feet, short hands as well as fingers. Usually the victims have hips that appear to have a dislocation, a round back, and contractures. Walking independently is quite an issue for the children, who also show characteristics of poor speech (Vuong & Berry, 2002). Health experts state that the children get an umbilical hernia, gingival hypertrophy and hoarseness in the voice because the vocal cords become stiff. Just like ML 1, the individuals may show symptoms of ear infection that ultimately results in deafness (Smith, 2011). Respiratory infections are common given the fact that the disease narrows the trachea thereby affecting the breathing systems. Mucolipidosis Type 3 Ordinarily, ML 3 systems begin to show when the child attains the age of between 3-5 years. The growth of the victims is extremely slow. In many cases, the patients have a mental form of retardation and abnormalities in the skeleton structure as determined by an x-ray. Agarwal & Gass, pointed out that the bones of affected people are weak because of osteoporosis coupled with joint complications (2012). Most significant are the abnormalities in the heart that may cause wild attacks. A number of the patients may exhibit intellectual disability or issues related to learning. Some characteristics on the face and shortness in the stature are clear indications of the defect. In addition, the patients may have instances of clouding in the cornea. Even though the patients may be lucky enough to grow into adulthood, the lifespan is short. Mucolipidosis Type 4 The disease manifests itself at tender age in children with the signs of poor cognitive growth. More often than not, the individuals have a deficiency in iron because of the lack of secretions of acid in the stomach. The individuals also experience incidences of rising levels of blood gastrin (Vuong & Berry, 2002). Victims lack the use of words and poor use of hands to carry out normal activities. Patients are prone to mental retardation related to disability on an intellectual level. Usually, the patients experience cases of visual impairedness due to crowding that begins slowly but progressively with time. Falseness in cross-eyes and muscular tone that is low is quite common. Causes and Diagnosis Mucolipidosis Type 1 To put the matter into perspective, the mutation of a gene called sialidase is the contributing cause of the defect. Alpha-N-acetyl neuraminidase is the protein that the gene produces. Lysosomes store the protein for specific use that promoted body growth. The protein aids in the processing of both carbohydrates and fats (Smith, 2011). In a situation where the protein is less within the body, excess fats and carbohydrates will store in the body thereby distorting the operations of the cell (Rayan & Upton, 2014). ML 1 has a close correlation with genes because children inherit the defect in a way that is autosomally recessive. For the disorder to occur, two genes that are capable of bringing about change must be in existence. Ideally, the parents are perfectly normal but each of the parents has different genes. In the event that both parents possess the gene, chances are that the children will get the disorder. To diagnosis the disorder, an ophthalmologist should perform tests to check for macula. Judging by the manifestation of the defect, sialyloligosaccharide, the protein whose deficiency causes the disorder, accumulates behind the eyes. This is attributable not only to poor visibility but also to the clouding of the cornea (Vuong & Berry, 2002). Additional tests will involve urine tests in an attempt to determine whether some materials relate to the defect. Bloods tests will assist in confirming ML 1 through the deficiency of the alpha-N-acetyl neuraminidase. Moreover, an x-ray by doctors will enhance the knowledge about whether or not dysostosis multiplex is presence in the bone structure. Mucolipidosis Type 2 Mutations in a gene known as GNPTAB contribute to the I-cell disorder. The main function of the gene is to manufacture an enzyme, GlcNAc-1-phosphotransferase. What happens is that the mutation interferes with the process of producing the enzyme that ultimately leads to a deficiency of the enzyme in the body. According to Agarwal & Gass, J. D. M. (2012), in the absence of the enzyme, it is very difficult to transfer the digestive material to the lysosomes. Rayan & Upton demonstrated that the diagnosis of the disorder involves clinical tests and assays of the plasma enzymes (2014). The tests show the existence of dysostosis multiplex. Body fluids plasma of individuals with the disease are usually high. Establishing an assay will also go a long way in diagnosing the disease. Most important is the screening under molecular mutation, the GNPTAB gene to confirm the diagnosis. Mucolipidosis Type 3 The defect is attributable to mutations in a gene known as GNPTG. The gene is very essential in the manufacture of an enzyme known by the name GlcNAc-1-phosphotransferase. The enzyme also plays a part in moving enzymes specifically M6P to the lysosomes. Mutation in the gene distorts the tagging of the enzyme thus M6P does not reach to the lysosomes (Rayan & Upton, 2014). Adverse consequences arising from few enzymes in the lysosomes include the build-up of excess molecules. A proper diagnosis focuses on genetic testing of molecules of the GNPTG to determine the existence of the mutation. Mucolipidosis Type 4 This category of defect results from the mutation of a gene known as MCOLN1. Essentially, the mutation interrupts activities within the cell. Miedel argued that the mutation of the gene, found in chromosome 19, makes the cells incapable of manufacturing enzymes that process lipids and fats (2008). Judging by the inability of the cells to process lipids and fats, the components settle in the cells. As part of the diagnosis, conjuctival biopsies serve as a sufficient form of diagnosis if it indicates the presence of storage components (Smith, 2011). Samples of blood tests enhance the diagnosis of ML 4, by showing the amount of gastrin in the body of a patient. Lastly, a test that emphasizes on carrier screening confirms the existence of the specific mutation of the gene in a person. Solutions and Nursing Intervention There exists no given method of curing ML 1 but a number of things can help control the condition. First off is to improve on the nutrition aspect in order to prevent cases of seizure control. Nurses will play a big role in this particular step especially during the period when the patients are in the hospital. In addition, antiepileptic drugs can create control on the condition and reduce the seizures (Agarwal & Gass, 2012). Minimizing ML2 and ML3 will entail conducting surgeries for patients with thin eye layers that cloud the eye and deter proper vision. Nutritional enhancement of vitamins and iron will support growth among the victims. Currently, the only available methods of controlling ML 4 is engaging the nurses in offering care and support in the form of speech therapy. The nurses should also offer genetic counselling to the affected families. Conclusion Metabolic defects arising from the inability of the body to function normally characterize Mucolipidosis (ML) disorders. Most significant are the gene mutations that interfere with proper functioning of the cells. ML diseases are of four types namely type 1, 2, 3 and 4. No specific treatment has remained identified to eliminate the defects. Nonetheless, nurses are instrumental in carrying out therapies, counselling and nutritional practices to control the disorders. References Agarwal, A.,& Gass, J. D. M. (2012). Gass atlas of macular diseases. Edinburgh: Elsevier Saunders. Miedel, M. (2008). The Role of Mucolipin-1 in Pathogenesis of the Lysosomal Storage Disease Mucolipidosis Type IV. New York: ProQuest Publishers. Rayan, G. M., & Upton, J. (2014). Congenital hand anomalies and associated syndromes. London: Springer Publishers. Smith, M. (2011). Phenotypic variation: Exploration and functional genomics. Oxford: Oxford University Publishers. Smith, M. (2013). Seeking cures: Design of therapies for genetically determined diseases. London: Oxford University Publishers. Vuong, P. N., & Berry, C. L. (2002). The pathology of vessels. Paris: Springer Publishers. Read More