Glucose-6-Phosphate Dehydrogenase

What is glucose-6-phosphate dehydrogenase deficiency?

Glucose-6-phosphate dehydrogenase deficiency is caused by the body not having enough of a specific enzyme called glucose-6-phosphate dehydrogenase, which is used by the body to process carbohydrates and protect red blood cells from damage. The most common sign of glucose-6-phosphate dehydrogenase deficiency is having a low number of red blood cells (called hemolytic anemia). Symptoms of hemolytic anemia can include pale skin, dark urine, shortness of breath and rapid heart rate. Many people may not know they have glucose-6-phosphate dehydrogenase deficiency at all.

How common is glucose-6-phosphate dehydrogenase deficiency?

Glucose-6-phosphate dehydrogenase deficiency mostly affects males, but in some cases, females can be affected too. People of certain ancestries have a higher risk of glucose-6-phosphate dehydrogenase deficiency, including African, Asian, Mediterranean, and Middle Eastern. About 1 in 1,000 babies born each year in the United States has glucose-6-phosphate dehydrogenase deficiency.

What can be done for glucose-6-phosphate dehydrogenase deficiency?

Although there is no cure for glucose-6-phosphate dehydrogenase deficiency, most people with the condition do not require any treatment at all. Rather, it is important for people with glucose-6-phosphate dehydrogenase deficiency to avoid exposure to certain foods, medications, and chemicals that can trigger hemolytic anemia.

How is glucose-6-phosphate dehydrogenase deficiency inherited?

Glucose-6-phosphate dehydrogenase deficiency is caused by changes in the G6PD gene. The G6PD gene is located on the X chromosome, so glucose-6-phosphate dehydrogenase deficiency is called an X-linked inherited condition. Males have one copy of the X chromosome while females have two. For males, a change in the G6PD gene on their only X chromosome can cause glucose-6-phosphate dehydrogenase deficiency. For females, an alteration in the G6PD gene on one X chromosome but a functioning copy on the other X chromosome usually does not result in signs or symptoms of glucose-6-phosphate dehydrogenase deficiency. Instead, this female is considered to be a carrier, because she can pass on the X-chromosome with the altered G6PD gene to her children. If a baby girl is identified as a carrier for glucose-6-phosphate dehydrogenase through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://rarediseases.org/rare-diseases/glucose-6-phosphate-dehydrogenase-deficiency/
https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency#diagnosis

ready to puchase eli?

Give your baby the best possible start to life with Eli.

Order Eli