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.
| Descriptor ID |
D015323
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| MeSH Number(s) |
C16.320.565.202.810 C18.452.648.202.810
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| Concept/Terms |
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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 this website by year, and whether "Pyruvate Metabolism, Inborn Errors" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Pyruvate Metabolism, Inborn Errors" by people in Profiles.
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Diagnosis, monitoring, and management of pyruvate kinase deficiency in children. Pediatr Blood Cancer. 2022 08; 69(8):e29696.
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Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020 05; 95(5):472-482.
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Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018 05 17; 131(20):2183-2192.
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Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms. Pediatr Neurol. 1989 Jul-Aug; 5(4):249-52.