Medical-Nutritional Intervention in a Jordanian Child with Glycogen Storage Disease Type IIIA: Case Report

Abstract

Abstract Background: Glycogen storage disease (GSD) type IIIa is a rare inborn error of metabolism characterized by a deficiency in glycogen disbranching enzymes. Nutritional intervention is a cornerstone in the medical care plane. Case presentation: A 2-year-old Jordanian male, who is known to have GSD IIIa since he was 4 months was admitted because of infection. The child was on a special diet (small, frequent meals of complex carbohydrates and protein, avoiding simple sugars and fasting is prohibited). The child showed good activity level and a good appetite. Method: The medical-nutritional intervention of GSD IIIa was evaluated by retrograde reviewing the child BMI, blood and biochemical tests on presentation and a month later visit. Results: The biochemical tests included: blood glucose, urea, creatinine, cholesterol, triglycerides, albumin, total bilirubin, aspartate amino transferase (AST), alanine aminotransferase (ALT) and WBCs were decreased after nutritional intervention, however, the RBCs blood test was increased. On presentation, the child’s weight and height were documented as above the 15th and at 97th percentile respectively for his age, no change after the one month later visit was observed. Conclusion: The biochemical and blood tests improved at the one-month follow-up visit vs. baseline. The individualized medical-nutritional intervention is a cornerstone in the management of GSD IIIa as part of a comprehensive medical care process.