Pyruvate Metabolism, Inborn Errors

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.

Year introduced: 1989

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Tree Number(s): C16.320.565.202.810, C18.452.648.202.810

MeSH Unique ID: D015323

Previous Indexing:

• Carbohydrate Metabolism, Inborn Errors (1966-1988)
• Pyruvates (1966-1988)

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
Leigh Disease
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
Leigh Disease
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease