Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for follow-up of GSD Type Ia (E74.0). Chief complaints include history of recurrent fasting hypoglycemia, growth retardation, and abdominal distension. Review of systems positive for episodes of diaphoresis, tremors, and lethargy during fasting intervals. Current dietary regimen includes frequent cornstarch supplementation. No reported episodes of lactic acidosis or hyperuricemia-related arthralgia at this time.
Clinical Examination Findings
General: Patient appears alert but exhibits short stature and doll-like facies. Abdomen: Significant hepatomegaly noted, firm on palpation, non-tender. Splenomegaly is typically absent. Skin: Xanthomas may be present on extensor surfaces. Anthropometrics: Height and weight plotted below the 5th percentile for age.
Treatment Protocol
Management plan: 1. Maintain normoglycemia via frequent feedings and nocturnal continuous gastric drip or uncooked cornstarch (1.5–2.5 g/kg every 4–6 hours). 2. Monitor metabolic markers: serum glucose, lactate, uric acid, and triglycerides. 3. Pharmacotherapy: Allopurinol for hyperuricemia if indicated; citrate supplementation for nephrocalcinosis prophylaxis. 4. Annual screening: Renal ultrasound and liver imaging (MRI/CT) to monitor for hepatic adenomas.