Disease at a Glance

Summary
Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. It occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin (jaundice). G6PD deficiency is inherited in an X-linked recessive manner and symptoms are more common in males (particularly African Americans and those from certain parts of Africa, Asia, and the Mediterranean). It is caused by genetic changes in the G6PD gene.
Estimated Number of People with this Disease
In the U.S., this disease is estimated to be fewer than

1,000

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 

Causes

Genetic Disease

Glucose-6-phosphate dehydrogenase deficiency is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: G6PD

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Last Updated: Nov. 8, 2021