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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 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.
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]
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.
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]
Common signs and symptoms include poor growth, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), hepatomegaly, lactic acidosis, hypoglycemia, neurological problems, and hypotonia. [6] A disease with comparable symptoms is also seen in autosomal recessive mutations of the MPC2 gene. [7]
Sucrose taken shortly before exercise mitigates symptoms in glycogenolytic defects (e.g. GSD-V) or worsens symptoms in glycolytic defects (e.g. GSD-VII); Ketosis improves symptoms; May have a pseudoathletic appearance (particularly of the calf muscles); Rhabdomyolysis and myoglobinuria possible; Baseline creatine kinase normal or elevated;
When pyruvate kinase – the enzyme that normally catalyzes the reaction that converts PEP to pyruvate – is knocked out in mutants of Bacillus subtilis, PEPCK participates in one of the replacement anaplerotic reactions, working in the reverse direction of its normal function, converting PEP to OAA. [13]
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