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(D81.5) Purine nucleoside phosphorylase [pnp] deficiency
More details coming soon
37 763 in individuals diagnosis purine nucleoside phosphorylase [pnp] deficiency confirmed
2 729 deaths with diagnosis purine nucleoside phosphorylase [pnp] deficiency
7% mortality rate associated with the disease purine nucleoside phosphorylase [pnp] deficiency
Diagnosis purine nucleoside phosphorylase [pnp] deficiency is diagnosed Men are 25.48% more likely than Women
23 693
Men receive the diagnosis purine nucleoside phosphorylase [pnp] deficiency
926 (3.9 %)Died from this diagnosis.
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14 070
Women receive the diagnosis purine nucleoside phosphorylase [pnp] deficiency
1 803 (12.8 %)Died from this diagnosis.
Risk Group for the Disease purine nucleoside phosphorylase [pnp] deficiency - Men aged 20-24 and Women aged 0-5
In Men diagnosis is most often set at age 0-14, 20-89
Less common in men the disease occurs at Age 15-19, 90-95+Less common in women the disease occurs at Age 55-59, 90-95+
In Women diagnosis is most often set at age 0-54, 60-89
Disease Features purine nucleoside phosphorylase [pnp] deficiency
Absence or low individual and public risk
Purine nucleoside phosphorylase [pnp] deficiency - what does this mean
Purine nucleoside phosphorylase (pnp) deficiency is an inherited disorder caused by a mutation in the pnp gene, which is responsible for producing the enzyme purine nucleoside phosphorylase. this enzyme is necessary for the breakdown of purines, which are molecules that are important for the production of energy and for the production of dna. without this enzyme, purines accumulate in the body, resulting in a variety of symptoms including anemia, developmental delays, and immunodeficiency.
What happens during the disease - purine nucleoside phosphorylase [pnp] deficiency
Pnp deficiency is caused by mutations in the pnp gene, which encodes the enzyme purine nucleoside phosphorylase. this enzyme is responsible for the breakdown of guanosine and inosine, two purine nucleosides. when this enzyme is deficient, these purine nucleosides accumulate in the body and cause a wide range of symptoms, including neurological, immunological, and hematological problems.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete blood count
- Urine analysis
- Genetic testing to identify mutations in the PNP gene
- Enzyme activity tests to measure PNP levels in the blood
- Liver function tests
- Magnetic resonance imaging (MRI) of the brain
- Prenatal testing of pregnant women at risk for having a child with PNP deficiency
Treatment and Medical Assistance
Main goal of the treatment:
To reduce the symptoms of PNP deficiency and improve overall health.
- Provide nutritional counseling and dietary guidance to reduce the risk of complications.
- Prescribe medications to reduce inflammation and improve the body’s ability to fight infection.
- Monitoring of organ function to ensure that the body is functioning properly.
- Provide physical therapy to help improve mobility and reduce pain.
- Administer regular blood tests to monitor the levels of PNP in the body.
- Provide genetic counseling to help families understand the risks associated with the condition.
- Provide psychological counseling to help individuals cope with the emotional impact of the condition.
- Administer enzyme replacement therapy to replace the missing enzyme in the body.
- Administer stem cell therapy to help the body produce healthy cells.
19 Days of Hospitalization Required
48 Hours Required for Outpatient Treatment
Purine nucleoside phosphorylase [pnp] deficiency - Prevention
Pnp deficiency can be prevented by genetic counseling and prenatal testing. couples with a family history of pnp deficiency should seek genetic counseling and consider prenatal testing to determine if the fetus is affected. additionally, early diagnosis and prompt treatment of any symptoms can help reduce the risk of long-term complications.