Author ORCID Identifier

Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

David Rodriguez-Buritica, MD, FACMG

Committee Member

Heather Saavedra, MS, RD/LD

Committee Member

Leslie Dunnington, MS, CGC

Committee Member

Syed Hashmi, MD, MPH, PhD

Committee Member

Victoria Wagner, MS, CGC


Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down glycogen and to perform gluconeogenesis. Complex management is then necessary for patients and includes dietary modification, frequent cornstarch usage, and evaluation for additional complications such as hepatic adenomas, hypertriglyceridemia, and kidney disease. Previous studies have found lower scores in quality of life and body image in GSDIa patients; however, the specific factors influencing this relationship remain unknown. In this study, 24 adult participants (n=24) with glycogen storage disease type Ia completed a survey including measures of health-related quality of life, body image, and metabolic control. Results found that quality of life was significantly lower than the general population on both the physical and mental component scores (t=-3.11, p=0.005; t=-2.21, p=0.03). Additionally, body image was significantly lower on all subscales: Weight (t=-5.88, p


glycogen storage disease, quality of life, body esteem, metabolic control, inborn errors of metabolism



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