Glycogen Storage Disease Type Ia

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Glycogen Storage Disease Type 1, also known as GSD Type 1, GSD 1, Von Gierke Disease

[edit] Definition

GSD 1 is the most common type of glycogen storage diseases, accounting for about one quarter (25%) of all cases. Normally, the body takes glucose (sugar) from food we eat and converts it into glycogen for storage. When we need energy, the glycogen form is broken down to release the glucose back into the bloodstream. With GSD 1, the enzyme needed to break down glycogen is missing or nonfunctional, so glucose cannot be released into the blood. Individuals with this condition develop hypoglycemia (low blood sugar) resulting in chronic hunger, fatigue, and irritability.

[edit] Description, Signs and Symptoms

Symptoms of GSD 1 are usually noticeable in the first year of life and include:

Severe low blood sugar (hypoglycemia)
Puffy cheeks, thin chest and limbs, and swollen belly
Constant hunger and need for frequent feedings
Stunted growth or growth failure
Delayed or underdeveloped puberty
Enlarged liver
Fatigue
Irritability
Gout (a painful inflammation of joints)
Easy bruising and nosebleeds

[edit] Inheritance

GSD 1 is an autosomal recessive condition.

[edit] Demographics

Incidence of GSD 1 is estimated to be around 1 in every 100,000 people. It is markedly more common among Ashkenazi Jews, with a prevalence of about 1 in 20,000.

[edit] Diagnosis

Upon observance of the symptoms, a doctor will look for signs of a swollen liver or liver tumors. To confirm the diagnosis a doctor may perform tests such as:

liver or kidney biopsy
Blood Sugar test
Genetic test
Lactic Acid test
Uric Acid blood test
Triglyceride level test

[edit] Treatment and Management

During early childhood, parents must ensure that the child receives frequent feedings, and to maintain blood sugar levels, a feeding tube must usually be used overnight. The best foods are those that contain lots of starch or carbohydrates. Throughout life, foods such as fruit and milk should be avoided because they contain types of sugars that the body will not be able to break down. If diagnosed early, by taking these precautions, individuals with GSD 1 can live long lives.

[edit] Prognosis

The prognosis for people with GSD has improved over recent years. With early diagnosis and careful treatment, most people survive well into adulthood. Complications may become life-threatening, however, such as liver tumors, kidney failure, gout, and extreme cases of low blood sugar which can cause seizures.