Hurler's Syndrome Analysis

Mucopolysaccharidosis Type I (MPS I) is considered a complex metabolic disorder that varies across a spectrum with 3 different types of conditions, including “Hurler syndrome” as the most severe, “Hurler-Scheie syndrome” as moderately severe, and “Scheie syndrome” as the least severe. Hurler’s syndrome affects young children, resulting in serious developmental delays, severe physical problems, and early deaths. Therefore, due to its austerity, this paper will mainly focus on a distinct review of Hurler’s syndrome’s etiology, epidemiology, pathology, symptoms and treatments.
Etiology:
Hurler’s syndrome is one of the inherited diseases known as lysosomal storage disorders. A defect occurs in metabolizing Mucopolysaccharides (also called glycosaminoglycans, …show more content…
According to Campos & Monaga (2012), the underlying pathophysiological mechanisms of its development are not completely understood. They proposed that reduced or absence of alpha-iduronidase disrupts a variety of the physiological and biochemical processes, such as cellular inflammation, and oxidative stress. Moreover, another study (Lin, 2013) suggested Hurler’s pathology is a result of the accumulation of dermatan and heparan sulfate in lysosomes that trigger changes in cellular metabolism which in turn lead to tissue and organ damage as well as the symptoms of MPS …show more content…
Consequently, I learned the significance of early diagnosis. Much of the research I came across by Poe et al (2014) as well as Shapiro et al (2015), indicated improvements with current treatments in managing symptoms are most observable when children are diagnosed very early on (2 years and younger). However, complications arise because there are very minimal symptoms at birth and many infants do not get diagnosed and treated until later (US,