Mutations in genes involved in glycogen synthesis and degradation were commonly found in children with idiopathic ketotic hypoglycemia. GSD IX is likely an unappreciated cause of ketotic hypoglycemia in children, while GSD 0 and VI are relatively uncommon. GSD IX alpha should particularly be considered in boys with unexplained hypoglycemia.
Glycogen storage disease (GSD) is an inherited disorder that requires a complex medical regimen to maintain appropriate metabolic control. Previous research has suggested the disease is associated with decreased quality of life, and clinical experience suggests that patients are at risk for disordered eating behaviors that may significantly compromise their health. The current study assessed eating attitudes, eating disorder symptoms, and body image among 64 patients with GSD ranging from 7-52 years old (M ¼ 18.5 years old). About half the participants were male (n ¼ 33, 51.6%). Most participants were diagnosed with GSD Type I (n ¼ 52, 81.3%). Quantitative and qualitative analyses were utilized. Results indicated that 14.8% of children and 11.1% of adolescents/ adults with GSD met the clinical cutoff for dysfunctional attitudes toward eating, suggesting high likelihood for presence of an eating disorder. However, traditional eating disorder symptoms (e.g., binging, purging, fasting, etc.) were less prevalent in the GSD sample compared to population norms (t ¼ À6.45, p < 0.001). Body esteem was generally lower for both children and adolescents/ adults with GSD compared to population norms. These results were consistent with interview responses indicating that GSD patients experience negative feedback from peers regarding their bodies, especially during childhood and adolescence. However, they reported growing acceptance of their bodies with age and reported less negative attitudes and behaviors. Assessing mental health, including symptoms of disordered eating and low body esteem, among individuals with GSD should be an important component of clinical care.
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