Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency Causes
PKD is caused by genetic defects in the pyruvate kinase gene. Once this gene becomes defective, enhanced oxygen delivery occurs, causing an overdose of the mineral. Oxygen would no longer be processed properly to feed on the needs of body organs, thus resulting to anemia. Preexisting medical conditions such as leukemia can also trigger PKD.
Pyruvate Kinase Deficiency Definition
Pyruvate kinase deficiency (PKD) is a common enzymatic disorder of the erythrocyte. It involves hematologic abnormalities leading to hemolytic anemia. When not treated, PKD can result to death due to anemia.
Pyruvate Kinase Deficiency Diagnosis
Laboratory studies and blood tests are conducted to diagnose PKD. Biopsies on pregnant women are also done to detect the onset of the disease. Imaging studies are as well held to check on how the disease has affected the bloodstream.
Pyruvate Kinase Deficiency Symptoms and Signs
The symptoms of PKD include anemia, jaundice, slow development of body organs, as well as abnormal eye movements.
Pyruvate Kinase Deficiency Treatment
Treatment for the disorder is by supplementing the pyruvate kinase enzyme on the blood. A bone marrow transplant may be required to address the need. Surgical operation such as splenectomy can also be done on severe cases, as well as blood transfusion if severe anemia has already taken place.