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loading...| Preferred Name |
Pyruvate Metabolism, Inborn Errors [Disease/Finding] |
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| Synonyms |
Pyruvate Metabolism, Inborn Errors |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003220 |
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| altLabel |
Pyruvate Metabolism, Inborn Errors |
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| cui |
C0034350 |
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| MESH DEFINITION |
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. |
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| MESH DUI |
D015323 |
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| MeSH name |
Pyruvate Metabolism, Inborn Errors |
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| MESH UI |
M0023592 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000003220 |
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| NUI |
N0000003220 |
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| prefLabel |
Pyruvate Metabolism, Inborn Errors [Disease/Finding] |
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| SNOMED CID |
53210006 |
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| tui |
T047 |
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| subClassOf |
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