The Pyruvate Kinase Deficiency market report provides an edge while developing business strategies, by understanding trends shaping and driving the global Pyruvate Kinase Deficiency (PKD) market.
Pyruvate Kinase Deficiency Overview
Pyruvate Kinase Deficiency (PKD) is a rare genetic disorder, signifies the lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily (premature destruction), resulting in a low level of these cells (haemolytic anaemia). Anaemia is a general term for when there are low levels of red blood cells in the bloodstream, and haemolytic (or haemolysis) means that the red blood cells break down prematurely.
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Pyruvate Kinase Deficiency Causes
PKD is caused by alterations (mutations) in the PKLR gene, which lead to a deficiency of the enzyme pyruvate kinase. These genetic alterations are inherited in an autosomal recessive manner. Pyruvate kinase is an enzyme that helps cells turn sugar (glucose) into energy (called adenosine triphosphate, ATP) in a process called glycolysis. Red cells rely on this process for energy, and so, pyruvate kinase deficiency leads to a deficiency in energy and to premature red cell destruction (haemolysis). Instead of lasting 120 days, red cells with pyruvate kinase deficiency last only a few days to weeks.
Pyruvate Kinase Deficiency Symptoms
PKD symptoms usually include the breakdown of red blood cells resulting in haemolytic anaemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor). In more severe cases, the first signs and symptoms may appear in utero in the form of hydrops fetalis, a condition in which abnormal amounts of fluid buildup in two or more body areas of the foetus. Newborns may present with prolonged jaundice and anaemia. Older children may be pale (due to anaemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anaemia tends to stabilize in adulthood, episodes of anaemia may occur with acute infections, stress, and pregnancy.
Pyruvate Kinase Deficiency Market Report
Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals.
Pyruvate Kinase Deficiency Treatment Market
PKD treatment is predominantly supportive as the available curative measures have a very high risk that outweighs the benefit of attempting them. The most important step is to control the associated anaemia and its complications. This can be done by: Simple transfusion, Supplemental folic acid and vitamins, Chelation therapy, Phototherapy and Splenectomy.
Pyruvate Kinase Deficiency Market Insights
Pyruvate Kinase Deficiency (PKD) is an autosomal recessive inherited disease that produces ineffective conversion of phosphoenolpyruvate in the Embden-Meyerhof Pathway, resulting in decreased production of ATP. It is the second most frequent enzymatic defect after G-6-P-D deficiency.
Pyruvate Kinase Deficiency Market Report Scope
Table of content
1. Key Insights
2. Executive Summary of Pyruvate Kinase Deficiency
3. Competitive Intelligence Analysis for Pyruvate Kinase Deficiency
4. Pyruvate Kinase Deficiency: Market Overview at a Glance
4.1. Pyruvate Kinase Deficiency Total Market Share (%) Distribution in 2017
4.2. Pyruvate Kinase Deficiency Total Market Share (%) Distribution in 2030
5. Pyruvate Kinase Deficiency: Disease Background and Overview
6. Patient Journey
7. Pyruvate Kinase Deficiency Epidemiology and Patient Population
8. Treatment Algorithm, Current Treatment, and Medical Practices
9. Unmet Needs
10. Key Endpoints of Pyruvate Kinase Deficiency Treatment
11. Marketed Products
12. Emerging Therapies
13. Pyruvate Kinase Deficiency: Seven Major Market Analysis
14. Attribute analysis
15. 7MM: Market Outlook
16. Access and Reimbursement Overview of Pyruvate Kinase Deficiency
17. KOL Views
18. Market Drivers
19. Market Barriers
20. Appendix
21. DelveInsight Capabilities
22. Disclaimer
23. About DelveInsight
Pyruvate Kinase Deficiency Market Report Highlights
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