What causes pyruvate kinase deficiency?
Causes. Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis.
What is pyruvate deficiency?
Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in a low level of these cells (hemolytic anemia).
What happens when a newborn has pyruvate kinase deficiency?
Most newborns with PK deficiency will develop jaundice because of the breakdown of red cells and the inability of their immature livers to conjugate bilirubin. Some affected infants may require phototherapy for hyperbilirubinemia.
What does low pyruvate kinase mean?
Pyruvate kinase deficiency is a condition in which red blood cells break down faster than they should. This can lead to anemia (not enough red blood cells). Most people with pyruvate kinase deficiency lead a healthy life.
What is the role of G6PD?
This enzyme, which is active in virtually all types of cells, is involved in the normal processing of carbohydrates. It plays a critical role in red blood cells, which carry oxygen from the lungs to tissues throughout the body. This enzyme helps protect red blood cells from damage and premature destruction.
Which type of anemia is associated with myelosuppression?
Pancytopenia. Pancytopenia is another confusing term, and is usually caused by myelosuppression. The term “pancytopenia” refers to inadequate numbers of all the types of blood cells, red blood cells, white blood cells, and platelets.
What deficiencies cause hemolytic anemia?
Vitamin E deficiency in the premature infant is associated with a hemolytic anemia.
How is G6PD diagnosed?
The diagnosis of G6PD deficiency is made by a quantitative spectrophotometric analysis or, more commonly, by a rapid fluorescent spot test detecting the generation of NADPH from NADP. The test is positive if the blood spot fails to fluoresce under ultraviolet light.
How is kernicterus diagnosed?
How is kernicterus diagnosed? Kernicterus is most often diagnosed in babies. One test that may be used to check bilirubin levels is a light meter. A doctor or nurse will check your baby’s bilirubin levels by placing the light meter on your baby’s head.
What happens if pyruvate kinase is inhibited?
During fasting state, pyruvate kinase is inhibited, thus preventing the “leak-down” of phosphoenolpyruvate from being converted into pyruvate; instead, phosphoenolpyruvate is converted into glucose via a cascade of gluconeogenesis reactions.
What is pyruvate kinase deficiency in red blood cells?
Pyruvate kinase deficiency in the red blood cells results in an inadequate amount of or complete lack of the enzyme, blocking the completion of the glycolytic pathway. Therefore, all products past the block would be deficient in the red blood cell. These products include ATP and pyruvate.
What is the pathophysiology of pyruvate deficiency?
Pathophysiology. Pyruvate kinase deficiency in the red blood cells results in an inadequate amount of or complete lack of the enzyme, blocking the completion of the glycolytic pathway. Therefore, all products past the block would be deficient in the red blood cell. These products include ATP and pyruvate.
What causes elevated pyruvate kinase activity in hemolytic anemia?
Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase “deficiency”. [Am J Med. 1987] Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase “deficiency”.
Is pyruvate deficiency dominant or recessive?
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive.