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| Disease found: | Cori Disease |
| Current as of: | Thu Nov 21 2024 |
| Disease Overview: | Mutation in AGL gene, which produces debranching enzyme for glycogen, leads to accumulation of abnormal glycogen (limit dextrans) in the liver, skeletal muscle, and cardiac muscle [more info] |
| Signs and Symptoms: | Presents from infancy to early childhood with hepatomegaly (most common symptom), failure to thrive, hypoglycemia with ketosis. Cardiomyopathy and limb-girdle muscle weakness are progressive, often later findings. [more info] |
| Diagnosis: | Genetic testing for mutations in the AGL gene [more info] |
| Treatment: | High-protein diet (25% of total energy) with cornstarch supplementation to maintain euglycemia. Infants should be fed every 3-4 hours. All patients should minimize fasting; bedtime snacks may be needed. [more info] |
| Clinical Management: | Blood glucose and blood ketone monitoring, at least several times/month. Liver function tests and liver ultrasound every 6-12 months. Annual neuro & MSK assessments. Cardiac labs, ECG, echo aver 1-5 years (depending on genetic subtype) [more info] |
| Referral: | Several large academic medical centers have dedicated Glycogen Storage Disorder programs/clinics. Genetic counseling is recommended. The Scientific Advisory Board of the Association for Glycogen Storage Disease offers a list of hospitals with GSD-focused clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |