pyruvate metabolism, inborn errors

Preferred Label : pyruvate metabolism, inborn errors;

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.;

MeSH annotation : an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: PYRUVATE METAB INBORN ERR;

Wikipedia link : https://en.wikipedia.org/wiki/Pyruvate metabolism, inborn errors;

Details

Origin ID

D015323;

UMLS CUI

C0034350;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Inborn error of pyruvate metabolism (disorder) [SNOMED CT concept]
- inborn error of pyruvate metabolism, nos [SNOMED Notion]
Record concept(s)
- pyruvate metabolism, inborn errors [MeSH concept]
Related MeSH Supplementary Concept(s)
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- pyruvic acid [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inborn error of pyruvate metabolism (disorder) [SNOMED CT concept]
- inborn error of pyruvate metabolism, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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