Cori Disease: Symptoms, Causes, Treatments

The Cori's disease Is a genetic pathology of metabolic character that produces an abnormal and pathological accumulation of glycogen (storage of Glucose) at the hepatic, muscular and / or cardiac levels (Gershen, Prayson and Prayson, 2015).

This pathology, also known as glycogenosis type III or Cori-Forbes disease, is a rare disease in the general population Which has a broad clinical spectrum (The Association for Glycogen Storage Disease UK, 2016).

Cory disease

As for the signs and symptoms characteristic of cori's disease, the most frequent are related to hypoglycemia, weakness Muscle, generalized growth retardation or hepatomegaly (Morales Vila, 2010).

On the other hand, at the etiologic level this disease is the product of an autosomal recessive genetic alteration, mainly due to a Genetic mutation located on chromosome 1, in the 1q21 location (Ibarra-Lúzar, Fer- dez Bravo, Villelabeitia-Jaureguizar, Arjona-Carmona and Bermejo-Fernández, 2006).

In addition to clinical suspicion, laboratory tests, such as liver biopsy, Immunohistochemistry, among other biochemical tests (Cosme, Montalvo, Sánchez, Ojeda, Zapata, Bujanda, Gutiérrez and Arenas, 2005).

Finally, the treatment is based on controlling the medical consequences. The most common is dietary planning for the maintenance of Levels of glucose in the body (Duke University Health System, 2013).

Characteristics of Cori's disease

Cori disease or type III glycogenosis is a genetic pathology caused by an abnormal accumulation of glucose (sugars) in different organs Of the body, through a complex called Glycogen (Genetics Home Reference, 2016).

Thus, Cori's disease is classified within a group and metabolic disorders termed as a whole as glycogenesis.

Although many subtypes of glycogenesis have been identified, they are all due to a disorder in glycogen metabolism (Labrune, Trioche Ebershweiler, Mollet Boudjemline, Hurbert Buron and Gajdos, 2010).

Glycogen is a biochemical compound that is present in our body and whose essential function is the energy reserve. Specifically, it is the Way in which the glucose is stored in different organs, especially in the muscles and the liver, besides other type of tissues rich in glycogen Such as the cardiac (Labrune, Ebershweiler Trioche, Mollet Boudjemline, Hurbert Buron and Gajdos, 2010).

In addition, the specific functions of this compound may vary depending on the tissue in which Labrune, Trioche Ebershweiler, Mollet Boudjemline, Hurbert Buron and Gajdos, 2010):

- Liver : Glucose accesses through the bloodstream to liver cells. Thus, after the food intake is stored as glycogen in
Different liver areas.

In this sense, when the level of blood sugars is reduced, stored glycogen releases glucose into the bloodstream and so the rest of Organs receive the necessary contribution to its efficient functioning.

- Skeletal muscles : In the case of muscle structure, glycogen is used locally to obtain the necessary energy During physical exertion.

Therefore, in order for our organism to have the capacity to transform glycogen into glucose to obtain an energetic substrate, it is essential that Different enzymes, such as the hexykinases (Labrune, Trioche Ebershweiler, Mollet Boudjemline, Hurbert Buron and Gajdos, 2010).

Thus, in the case of Cori's disease, the characteristics of its clinical course are derived from the presence of alterations in both storage As in the degradation of glycogen, also affecting the enzymes involved in this process.

Specifically, type II glycogenesis or Cori's disease was initially described by Sanapper and Van Creveld in 1928. However, it was not Until 1956, when Illingworth and his work group described the enzymatic defect that gives rise to this pathology (Cosme, Montalvo, Sánchez, Ojeda, Torrado, Zapata, Bujanda, Gutiérrez and Arenas, 2005).

Therefore, if we refer to the clinical description of this pathology, the absence or deficit of the above glycosidic amyllo-1,6, produces a Excessive storage of glycogen in the liver, muscles, and in other cases the heart (National Organization for Rare Disroders, 2016).

In addition, Cori's disease has several clinical subtypes (IIIa, IIIb, IIIc and IIId) classified according to specific signs and symptoms (Genetics Home reference, 2016):

- Type IIIa and IIIc : Mainly affect the liver and muscle structure.

- Type IIIb and IIId : Usually, they only affect the liver areas.

About us

Overall, glycogenesis typically has a prevalence of less than one case per 40,000 people (National Organization for Rare Disorders, 2016).

Thus, Cori's disease is a rare genetic pathology, in the case of the United States, the prevalence has been estimated around 1 case per 100,000 people (Genetics Home Reference, 2016).

Different research indicates that it is a disease with a higher frequency in people with Jewish ancestry, especially in the north of Africa, reaching approximately in case by 5,400 people (Genetics Home Reference, 2016).

In addition, in relation to other demographic traits, such as sex, a higher frequency associated with the female or male sex has not been identified (National Organization for Rare Disorders, 2016).

On the other hand, in the subtypes of cori disease, the most common form is IIIa, accounting for 85% of total cases. This type Is usually followed by the form IIIb, representing 15% of those affected by this pathology (Genetics Home Reference, 2016).

Most frequent signs and symptoms

The clinical course of cori disease is usually variable, depending on the areas that are most affected. However, in most of the Cases are often evident during the infantile stage.

Generally, the most frequent signs and symptoms are related to (Genetics Home Reference, 2016; Morales Vila, 2010; National Organization for Rare Disorders, 2016):

to) Hypoglycemia

With the term Hypoglycemia We refer to the presence of low blood sugar levels, that is, to a deficient level of glucose.

Normally, the level should be below 70mg / dl to be considered abnormal or pathological.

Thus, this medical condition may lead to the development of other complications such as (National Institutes of Health, 2014):

- Change in heart rate and rhythm.

- Recurrent headache.

- Reduced or increased appetite.

- Impaired visual ability, such as blurred or double vision.

- Mood changes : Irritability, aggression, anxiety, etc.

- Difficulty getting to sleep.

- Fatigue, weakness and generalized fatigue.

- Tingling sensations and numbness.

- Intense sweating.

- Dizziness and loss of consciousness.

B) Hyperlipidemia

In this case, the term hyperlipidemia refers to the presence of elevated levels of lipids, ie, fats in the bloodstream.

It is usually associated with genetic factors that lead to increased levels of cholesterol And triglycerides in the blood.

At a specific level, this disorder may lead to the development of other types of medical complications, mainly related to
Institutes of Health, 2014):

- Heart discomfort, angina pectoris and other heart-related disorders.

- Itchy and cramping sensation in the lower extremities.

- Problems related to the healing of superficial wounds.

- Symptoms related to strokes: muscle weakness or paralysis, language problems, etc.

C) Muscle hypotonia

One of the earliest signs of this pathology is the presence of marked muscular weakness.

Muscle tone is abnormally reduced, making it difficult to perform all kinds of activities and motor acts.

(D) Myopathy

The recurrent presence of hypotonia and other alterations related to motor function leads to the development of Myopathies .

With the term myopathy we refer to a wide range of muscular diseases that are characterized by the presence of inflammation Muscle weakness and weakness.

Therefore, medical complications related to myopathies include (National Institute of Neurological Disorders and Stroke, 2011):

- Progressive muscular weakness, starting from the proximal structures, that is, the muscles closest to the trunk.

- Tissue damage in muscle fibers.

- Tiredness and fatigue related to motor acts: walking, breathing, swallowing, etc.

- Recurrent muscle pain.

- Increased skin sensitivity.

- Difficulty walking, maintaining posture, talking, swallowing, etc.

and) Hepatomegaly

On the one hand, with the term hepatomegaly we refer to the presence of an abnormally large liver.

Normally, due to inflammation and / or volumetric increase, the liver usually invades several areas, reaching the lower areas of the ribs.

Some of the signs and symptoms that can cause hepatomegaly are related to:

- Abdominal pain and distention.

- Feeling dizzy.

- Recurrent nausea and vomiting.

- Jaundice.

- Discoloration of urine and / or faeces.

F) Cirrhosis and Hepatic Insufficiency

Cirrhosis Is the term used to refer to the presence of progressive deterioration of the liver, both structural and functional.

Specifically, healthy liver tissue becomes scarred, impeding blood circulation through its different structures.

In addition to a wide variety of symptoms (nausea, vomiting, weakness, fatigue, persistent abdominal pain, etc.), cirrhosis can lead to Development of important medical complications (National Institute of Diabetes and Digestive and Kidney Diseases, 2016):

- Tumor formations.

- Diabetes.

- Hepatic encephalopathy.

- Gallstones.

- Portal hypertension.

- Splenomegaly.

- Jaundice.

- Liver failure.

- Hemorrhages and bruises.

- Edema and ascites.

G) Cardiomyopathy

In this case, the term Cardiomyopathy Is used in the medical field to refer to different pathological processes that affect the integrity and
Functioning of the heart muscle.

Generally, the alterations are related to (Spanish Heart Foundation, 2016):

- Poor contraction: the presence of poor contraction of the cardiac muscle difficulty the blood output from its interior.

- Poor relaxation: the presence of poor relaxation of the heart muscle hinders the entry of blood into the heart.

- Poor contraction and relaxation: the presence of abnormalities in both processes makes it difficult to pump normal and efficient blood from the heart to
Rest areas and body organs.

H) Stunted growth

The different hepatic, muscular and cardiac symptoms can cause important alterations related to the growth.

Typically, affected individuals typically exhibit abnormally short stature and abnormally low growth standards compared to other People of the same sex and biological age.


Cori's disease has a genetic origin, mainly related to different mutations located on chromosome 1, in the 1p21 location (Tegay, 2014).

In this case, genetic alterations will produce a deficient or insufficient activity of the glycogen-degrading enzyme (Morales Vila, 2010).

As a consequence, the affected individuals present a marked difficulty to carry out the different biochemical processes of glucose release From glycogen and, therefore, an abnormal accumulation of this and different pathologies related to energy reserves (Morales Vila, 2010).

In most of the diagnosed cases, it has been possible to identify at least 4 or 5 genes defective and related to the clinical characteristics Of Cori's disease (National Organization for Rare Disorders, 2016).


The clinical characteristics of Cori's disease are significant during the infantile stage, therefore, to the clinical suspicion from the Analysis of medical history and physical examination, it is essential to perform a metabolic examination (Froissart, 2009).

Through blood examination and biopsy of different tissues, it is necessary to identify the presence of enzyme deficiencies related to the Glycogen (Froissart, 2009).


Although there is no definitive cure for Cori's disease, different therapeutic interventions have been designed, some of them described By the Spanish Association of Glucogenesis Patients (Morales Vila, 2010):

- Treatment of episodes of hypoglycemia : Carbohydrate dose increase, dietary regulation, glucagon administration Subcutaneous or venous, intravenous inclusion of glucose etc.

- Surgical care : In severe cases of cirrhosis of the liver, surgical approaches are necessary and, fundamentally, transplantation of liver.

- Pharmacotherapy: Administration of drugs is mainly related to the treatment of episodes of pain and the Cardiac abnormalities

- Dietary attention: The regulation of food intake is a fundamental aspect in this and other pathologies of character metabolic. It is necessary to maintain a balanced diet, with nocturnal supply of glucose.


  1. AGSD. (2016). Glycogen Storage Disease Type III . Retrieved from The Association for Glycogen Storage Disease UK:
  2. Cosme, A., Montalvo, I., Sánchez, J., Ojeda, E., Torrado, J., Zapata, E., et al. . . Arenas, E. (2005). Glucogenosis type III associated with carcinoma Hepatocellular. Gastroenterol Hepatol , 622-5.
  3. Duke University Health System. (2016). What are the different types of Glycogen Storage Disease? Obtained from Duke Children's.
  4. FEC. (2016). Cardiomyopathies . Retrieved from the Spanish Foundation of the Heart.
  5. Froissart, R. (2016). Glycogen storage disease due to glycogen debranching enzyme deficiency . Obtained from Orphanet.
  6. Gershen, L., Prayson, B., & Prayson, R. (2015). Pathological characteristics of glycogen storage disease III in skeletal muscle. Case Reports / Journal of Clinical Neuroscience , 1674-1675.
  7. Ibarra-Lúzar, J., Fernández-Bravo, A., Villelabeitia-Jaureguizar, K., Arjona-Carmona, I., & Bermejo-Fernández, G. (2016). Glucogenosis type III. Rehabilitation (Madr). , 216-8.
  8. Labrune, P., Ebershweiler, P., Mollet Boudjemline, A., Hubert Buron, A., & Gajdos, V. (2010). Glucogenosis. EMC .
  9. Morales Vila, A. (2010). Informative Guide for Type II Flucogenesis (Cori-Forbes Disease). Spanish Association of Patients with Glucogenosis .
  10. NIH. (2015). Familial combined hyperlipidemia . Obtained from MedlinePlus.
  11. NIH. (2015). Low blood sugar . Obtained from MedlinePlus.
  12. NIH. (2016). Glycogen storage disease type III . Retrieved from the Genetics Home Reference.
  13. NIH. (2016). Cirrhosis . Retrieved from the National Institute of Diabetes and Digestive and Kidney Diseases.
  14. NORD. (2016). Forbes Disease . Retrieved from the National Organization for Rare Disorders.
  15. Tegay, D. (2014). Genetics of Glycogen-Storage Disease Type III . Obtained from Medscape.

Loading ..

Recent Posts

Loading ..