Researcher(s)
- Eva Szura, Biological Sciences, University of Delaware
Faculty Mentor(s)
- Yasuhiko Ago, , Nemour's Childrens' Hospital
Abstract
Morquio A is an autosomal recessive disorder where patients present with lacking N-acetylgalactosamine-6-sulfate-sulfatase (GALNS.) The absence of this enzyme causes the degradation of KS and C6S to become blocked, which leads to the accumulation of GAG in lysosomes in tissues. Morquio A is characterized by multiple enzymatic deficiencies, short stature, abnormal bone growth, and low hormone levels. This rare disorder is characterized based on two subtypes: severe and attenuated. There have also been two forms of therapy that Morquio A patients can undergo, which are enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT.) Due to HSCT being relatively new, patients who have undergone ERT and who have not received ERT were analyzed. Patients who are in this study filled out an activity of daily living survey (ADL) across multiple visits during a specific time period. ADL surveys consisted of four subsections which were movement, movement and cognition, cognition, and other. The scores from these surveys across two visits were analyzed using Excel. Paired T-tests were done and showed Morquio A patients have no real significance across visit one and visit two ADL scores in each subsection of the survey. In ERT versus non-ERT patients, as age increases, non-ERT patients have decreased ADL scores in certain subsections of the survey. Past research has been done to try to determine if specific therapies can help prolong the life expectancy of Morquio A patients. Depending on if they are severe or attenuated, this data from ADL surveys can be extremely helpful to see if patients should undergo ERT or HSCT to help benefit their daily living.