Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for follow-up of GSD III (Cori disease). History significant for debranching enzyme deficiency, presenting with recurrent fasting hypoglycemia, hepatomegaly, and failure to thrive. Reports [stable/worsening] episodes of post-prandial abdominal distension. No current complaints of muscle weakness, exercise intolerance, or cardiomyopathy symptoms. Compliance with cornstarch regimen and high-protein diet is [reported/variable].
Clinical Examination Findings
General: Patient appears [well-nourished/cachectic]. Abdomen: Significant hepatomegaly noted; liver span [X] cm, firm, non-tender. Spleen not palpable. Musculoskeletal: Muscle tone [normal/decreased], no evidence of proximal myopathy or atrophy. Cardiovascular: Regular rate and rhythm, no murmurs or signs of congestive heart failure. Neurological: Intact, no focal deficits.
Treatment Protocol
Management plan: 1. Maintain frequent feedings with complex carbohydrates (uncooked cornstarch) to prevent hypoglycemia. 2. High-protein diet to support muscle mass and gluconeogenesis. 3. Monitor liver function tests (LFTs) and creatine kinase (CK) levels. 4. Annual echocardiogram to screen for hypertrophic cardiomyopathy. 5. Referral to metabolic specialist and dietitian.