Galactosidase for Morquio's Syndrome

Introduction

The abnormalities that are present in human bodies can be tracked from the childhood. Due to the hereditary deficiencies, the physical abnormalities are shown. According to the specialists, Morquio syndrome is a type of Mucopolysaccharidoses (MPS) IV which are group of hereditary storage diseases and are secondary to the lysosomal enzymes. The Morquio syndrome is the deficient enzyme and can be associated with cataract, optic atrophy, pigmentary degeneration and corneal clouding (Leslie, et al., 2005). The primary pathology is defective degradation of keratan sulphate due of two enzyme deficiencies – acetylgalacto seamine (chromosome 16p) or galactosidase (chromosome 3p) (Ransford, et al., 1996; Mettananda and Fernando, 2007). From the previous studies, the obvious abnormalities are in the degree of keratocyte disruption and can strike to the late stage of the disease in the case of the syndrome (Leslie, et al., 2005).

The Creation of Protocol

The absences or the reduction of the activity of the enzymes such as galactosidase is inherited and therefore the medicinal communities are responsible to create effective action regarding this case. Through the operation performed by the physicians, the standard operating procedures were developed as a protocol. There are three courses that involved in the operation and classified as preoperative imaging, operating technique, and late postoperative course. In the beginning, the preoperative imaging is performed under the general anesthesia. After the fist procedure, the operative technique is taken place. There are various applied techniques that are followed by the specialist to secure the success of the operation. The halo body jacket is preferred to use for the patients and be fit with the plaster jacket that can reduce and immobilized the position during the operation. Having determining the optimum position, another anesthesia is provided and the patients are provided with the proper ventilation. During the operation, the surgeon can duly perform the bone graft and neck operation. The plates are placed on the appropriate areas so that the approach on a successful operation is highly positive. In the late postoperative course, the splints that used to worn by the patients are removed that restores and helps accumulate the strength they need (Ransford, et al., 1996).

Analysis

The Morquio syndrome is characterized by the short-trunk dwarfism and the common features are clearly different from the norms of the society. The involvement of the cardiac is recognized as the poor condition of the body that is under the category of the morquio syndrome (Mettananda and Fernando, 2007). The facilitated operation on the morquio syndrome had undergone various assessments. Most of the results predicted that the morquio disease came from the different mutations of the galatosidase gene. Among the patients, the deficiency can be differe through the various mutations and stages of the genes. Therefore, the medical practitioners should provide a natural model in validating the functional roles of the plates to improve the quality of life of the patients (Hinek, et al., 2000). In the idea that the destruction of the connective tissues, the patient has a burden to carry the disease in a lifetime which is definitely affects the normal everyday living. Such simple means of communication can greatly affect the individuals’ self-esteem. But in most cases, the children with the debilitating genetic birth defect, the availability of the homeschooled program is at their reach. This is provided for the children with difficulty in moving the muscles because the morquio syndrome affects the muscle development (Sykes, 2004).

Conclusion

Due to the certain deficiencies in genes that are present among the young population, there is a great call of concern for the medical team in the further exploration for different medical processes. Certain thing such as biotechnology assists the people to improve the quality of their own life. The morquio syndrome is still undetected during the antenatal period and can be only recognized after the birth. Most of the cases are found to be developing for over the years. The early detection of the syndrome is highly appreciated by the mothers to determine the best treatment and operational procedures suitable for the patient.

References:

Hinek, A., Zhang, S., Smith, A., & Callahan, J., 2000. Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosodosis is Linked to Deficiency in the 67-kD Spliced Variant of b-Galactosidase, The American Society of Human Genetics, Vol. 67 [Online] Available at: http://www.sciencedirect.com [Accessed 05 March 2010].

Leslie, T., Siddiqui, M., Aitken, D., Krkness, C., Lee, W., & Fern, A., 2005. MOrquio Syndrome: Electronmicroscopic Findings, British Journal of Ophthalmology, Vol. 89, No. 7 [Online] Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772727/#__secid411323 [Accessed 05 March 2010].

Mettananda, D., & Fernando, A., 2007. A Child with Morquio Syndrome and Mixed Mitral Valve Disease, Ceylon Medical Journal, [Online] Available at: http://www.cmj.slma.lk/MARCH%202008%20CMJ%20Case%20reports.pdf [Accessed 05 March 2010].

Ransford, A., Crockard, H., Stevens, J., & Modagheigh, S., 1996. Occipito-Atlanto-Axial Fusion in Morquio-Brailsford Syndrome, British Editorial Society of Bone and Joint Surgery, Vol. 78, No. 2 [Online] Available at: http://www.jbjs.org.uk/cgi/reprint/78-B/2/307.pdf?ck=nck [Accessed 05 March 2010].

Sykes, T., 2004. Rising to the Top: Donald Riley Doesn’t Allow Physical Limitations to Stop His Aspirations, Black Enterprise, November - Vol. 35, No. 4.