What are the other Names for this Condition? (Also known as/Synonyms)

• Biphosphoglyceromutase Deficiency Disorder
• BPGM Deficiency Disorder
• DPGM Deficiency Disorder

What is Diphosphoglycerate Mutase Deficiency of Erythrocyte? (Definition/Background Information)

• Diphosphoglycerate Mutase Deficiency of Erythrocyte is a rare, inherited disorder caused by mutations(s) in the BPGM gene, that codes for the enzyme bisphosphoglycerate mutase
• The affected individuals may have signs and symptoms of hemolytic anemia and cyanosis. An increase in the number of red blood cells (RBCs) and an increased affinity of RBCs to oxygen may occur as well

Who gets Diphosphoglycerate Mutase Deficiency of Erythrocyte? (Age and Sex Distribution)

• Diphosphoglycerate Mutase Deficiency of Erythrocyte is a rare congenital disorder. The presentation of symptoms may begin in infancy
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Diphosphoglycerate Mutase Deficiency of Erythrocyte? (Predisposing Factors)

• A positive family history may be an important risk factor, since Diphosphoglycerate Mutase Deficiency of Erythrocyte can be inherited
• Additionally, children of parents who are close blood relatives (such as first cousins) have a higher risk factor for this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Diphosphoglycerate Mutase Deficiency of Erythrocyte? (Etiology)

• Diphosphoglycerate Mutase Deficiency of Erythrocyte is caused by mutations(s) in the BPGM gene, that codes for the enzyme bisphosphoglycerate mutase
• This enzyme catalyzes the generation of 2,3 biphosphoglycerate, which is found in the red blood cells
• In Diphosphoglycerate Mutase Deficiency of Erythrocyte, two different mutations in the BPGM gene on each chromosome have been reported. This is known as “compound heterozygosity”

What are the Signs and Symptoms of Diphosphoglycerate Mutase Deficiency of Erythrocyte?

The signs and symptoms of Diphosphoglycerate Mutase Deficiency of Erythrocyte may include:

• Hemolytic anemia, resulting in:
• Pale skin
• Muscle pain
• Headache
• Nausea and vomiting
• Diarrhea
• Fatigue
• Shortness of breath
• Rapid heartbeat
• Cyanosis or blue-tinged appearance of skin
• Increased affinity of red blood cells to oxygen
• Increased number of red blood cells in blood (polycythemia)

How is Diphosphoglycerate Mutase Deficiency of Erythrocyte Diagnosed?

Diphosphoglycerate Mutase Deficiency of Erythrocyte is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Diphosphoglycerate Mutase Deficiency of Erythrocyte?

The complications of Diphosphoglycerate Mutase Deficiency of Erythrocyte may include:

• Excessive fatigue may not allow an affected individual to carry out day-to-day activities
• Enlarged heart
• Heart failure

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Diphosphoglycerate Mutase Deficiency of Erythrocyte Treated?

There is no cure for Diphosphoglycerate Mutase Deficiency of Erythrocyte, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that may develop

How can Diphosphoglycerate Mutase Deficiency of Erythrocyte be Prevented?

• Diphosphoglycerate Mutase Deficiency of Erythrocyte may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Diphosphoglycerate Mutase Deficiency of Erythrocyte? (Outcomes/Resolutions)

• The prognosis of Diphosphoglycerate Mutase Deficiency of Erythrocyte is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Diphosphoglycerate Mutase Deficiency of Erythrocyte:

• Diphosphoglycerate Mutase Deficiency of Erythrocyte may also be known as Familial Diphosphoglycerate Mutase Deficiency Disorder

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/