Cori Disease

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

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

Common symptoms

Presents from infancy to early childhood with hepatomegaly (most common symptom)failure to thrivehypoglycemia with ketosis. Cardiomyopathy and limb-girdle muscle weakness are progressiveoften later findings.

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing for mutations in the AGL gene

HOW TO TEST

  • Recommendation 1

    Genetic testing for mutations in the AGL gene

TREATMENT

  • Recommendation 1

    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

  • Recommendation 2

    bedtime snacks may be needed.

PRIMARY CARE

  • Recommendation 1

    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)

FURTHER SUPPORT

  • Recommendation 1

    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

Sources

No data available

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