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Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. [ 4 ] [ 5 ] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive .
Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia, following G6PD deficiency. [13] The symptoms of pyruvate kinase deficiency are mild to severe hemolytic Anemia , cholecystolithiasis , tachycardia , hemochromatosis , icteric sclera, splenomegaly , leg ulcers , jaundice , fatigue , and shortness of ...
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. [2] High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
Many Enterobacteriaceae, including E. coli, have two isoforms of pyruvate kinase, PykA and PykF, which are 37% identical in E. coli (Uniprot: PykA, PykF).They catalyze the same reaction as in eukaryotes, namely the generation of ATP from ADP and PEP, the last step in glycolysis, a step that is irreversible under physiological conditions.
The FDA approved mitapivat based on evidence from two clinical trials of 107 participants with pyruvate kinase deficiency. [3] Trial 1 (NCT03548220) of 80 adults with pyruvate kinase deficiency who did not receive regular blood transfusions and trial 2 (NCT03559699) of 27 adults with pyruvate kinase deficiency who received regular blood transfusions. [3]
Hemolytic–uremic syndrome (HUS) is a group of blood disorders characterized by low red blood cells, acute kidney injury (previously called acute renal failure), and low platelets. [1] [3] Initial symptoms typically include bloody diarrhea, fever, vomiting, and weakness. [1] [2] Kidney problems and low platelets then occur as the diarrhea ...
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Pyruvate dehydrogenase lipoamide kinase isozyme 4, mitochondrial (PDK4) is an enzyme that in humans is encoded by the PDK4 gene. [5] [6] It codes for an isozyme of pyruvate dehydrogenase kinase. This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain.
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