Glycogen storage disease type III

Overview

Type III glycogen storage disease (GSD III) is also called Cori disease.

Cori disease is a condition in which the body cannot break down glycogen for energy. Glycogen is stored in the liver and muscles and is normally broken down into glucose when you do not eat.

What are the Symptoms of Cori Disease?

  • Constant hunger and need to eat often
  • Fatigue
  • Irritability
  • Abdominal protrusion

What Causes Cori Disease?

Cori disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues. When glycogen is not broken down properly, it leads to low blood sugar.

Cori disease is inherited, which means it is passed down through families. If both parents carry the defective gene related to this condition, each of their children has a 25% chance of developing the disease.

Who is at Highest Risk?

Siblings of patients with cori disease are at highest risk

Diagnosis

The health care provider will perform a physical exam.

There may be signs of:

  • Delayed puberty
  • Enlarged liver
  • Liver tumors
  • Severe low blood sugar (hypoglycemia)
  • Stunted growth or failure to grow
  • Cardiomyopathy
  • Muscle weakness

Tests that may be done include:

  • Biopsy of liver or kidney
  • Blood sugar test
  • Genetic testing
  • Lipid profile
  • Liver function test
  • Ketone test
  • Creatine kinase levels

Testing reveals low blood sugar and high levels of  ketones, creatine kinase, lipids, and liver enzymes.

When to Seek Urgent Medical Care?

Call your health care provider if you have a family history of glycogen storage disease or early infant death due to low blood sugar.

Treatment Options

The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth.

Overnight, a feeding tube is placed through the nose into the stomach to provide sugars or uncooked cornstarch. The tube can be put in at bedtime and taken out each morning.

Where to find Medical Care for glycogen storage disease type III?

Medical care for glycogen storage disease type III can be found here.

Prevention

Genetic counselling may help prevent disease if there is a family history of Cori disease.

What to Expect (Outlook/Prognosis)?

Since treatments have been developed, growth, puberty, and quality of life have improved for people with cori disease. Those who are identified and carefully treated at a young age can live into adulthood.

Early treatment also decreases the rate of severe problems such as:

  • Life-threatening low blood sugar
  • Liver tumors
  • Muscle weakness
  • Heart abnormalities

Possible Complications

  • Liver tumors
  • Seizures, lethargy, confusion due to low blood sugar
  • Short height
  • Underdeveloped secondary sexual characteristics (breasts, pubic hair)
  • Polycystic ovary syndrome
  • Myopathy
  • Cardiomyopathy

Sources


Attribution

This article incorporates public domain material from Wikidoc and MedlinePlus. Please see licenses for further details.

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