Cori's disease

Cori's Disease, also known as Glycogen Storage Disease Type III (GSD III), is a rare, inherited metabolic disorder that affects the body's ability to store and use glycogen, a form of sugar stored in the liver and muscles for energy. This condition is named after Carl Ferdinand Cori and Gerty Cori, the husband-and-wife biochemists who significantly contributed to our understanding of glycogen metabolism. Cori's Disease is caused by a deficiency in the enzyme amylo-1,6-glucosidase, also known as debranching enzyme, leading to abnormal accumulation of glycogen in the body.

Symptoms

The symptoms of Cori's Disease can vary widely among individuals but typically include muscle weakness, hypoglycemia (low blood sugar), hepatomegaly (enlarged liver), and growth retardation. The severity of symptoms can range from mild to severe and can develop in infancy, childhood, or adolescence.

Diagnosis

Diagnosis of Cori's Disease involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests can detect abnormalities in liver function and the presence of abnormal glycogen in the liver. Genetic testing can confirm the diagnosis by identifying mutations in the AGL gene, which provides instructions for making the enzyme that is deficient in individuals with GSD III.

Treatment

There is no cure for Cori's Disease, but treatment focuses on managing symptoms and preventing complications. Treatment strategies may include dietary management to maintain normal blood sugar levels, such as frequent high-carbohydrate meals or cornstarch therapy. In some cases, individuals may require enzyme replacement therapy or other interventions to manage complications.

Prognosis

The prognosis for individuals with Cori's Disease varies. With appropriate management, many individuals can lead relatively normal lives. However, complications such as cirrhosis of the liver or muscle damage can occur, potentially affecting life expectancy and quality of life.

Epidemiology

Cori's Disease is a rare condition, with an estimated incidence of 1 in 100,000 to 1 in 200,000 live births. It affects males and females in equal numbers and has been reported in various ethnic groups worldwide.