Pyruvate Metabolism, Inborn Errors
"Pyruvate Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
MeSH Number(s)
C16.320.565.202.810
C18.452.648.202.810
Below are MeSH descriptors whose meaning is more general than "Pyruvate Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Pyruvate Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Pyruvate Metabolism, Inborn Errors" by people in Harvard Catalyst Profiles by year, and whether "Pyruvate Metabolism, Inborn Errors" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2018 | 5 | 0 | 5 |
| 2019 | 2 | 0 | 2 |
| 2020 | 6 | 0 | 6 |
| 2021 | 2 | 0 | 2 |
| 2022 | 3 | 3 | 6 |
| 2023 | 4 | 0 | 4 |
| 2024 | 2 | 0 | 2 |
Below are the most recent publications written about "Pyruvate Metabolism, Inborn Errors" by people in Profiles.
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Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment. Haematologica. 2024 Mar 01; 109(3):963-967.
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Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. Lancet Haematol. 2024 Mar; 11(3):e228-e239.
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Mortality among US veterans with a physician-documented diagnosis of pyruvate kinase deficiency. Hematology. 2024 Dec; 29(1):2290746.
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The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design. BMJ Open. 2023 03 23; 13(3):e063605.
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Updates and advances in pyruvate kinase deficiency. Trends Mol Med. 2023 05; 29(5):406-418.
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Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency. Am J Hematol. 2023 03; 98(3):E57-E60.
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Mitapivat in adult patients with pyruvate kinase deficiency receiving regular transfusions (ACTIVATE-T): a multicentre, open-label, single-arm, phase 3 trial. Lancet Haematol. 2022 Oct; 9(10):e724-e732.
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Pyruvate kinase deficiency: clinical expression and new therapies. Clin Adv Hematol Oncol. 2022 07; 20(7):422-425.
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Mitapivat versus Placebo for Pyruvate Kinase Deficiency. Reply. N Engl J Med. 2022 06 30; 386(26):2539.
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Diagnosis, monitoring, and management of pyruvate kinase deficiency in children. Pediatr Blood Cancer. 2022 08; 69(8):e29696.