ONKI3 | Medical Subject Headings

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Pyruvate Metabolism, Inborn Errors

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Pyruvate Metabolism, Inborn Errors 12 coordinate concepts 3 subordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Pyruvate Metabolism, Inborn Errors 12 coordinate concepts 3 subordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Pyruvate Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Narrower terms:	Leigh Disease \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease X
Annotation:	an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: PYRUVATE METAB INBORN ERR X
History note:	Carbohydrate Metabolism, Inborn Errors (1966-1988) \| Pyruvates (1966-1988)X
historyNote*:	89 X
publicMeSHNote*:	89 X
Scope note:	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. X
activeMeSHYear*:	2007X
dateCreated*:	1988-05-31X
dateEstablished*:	1989-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	EJBX
Type:	Concept X
Coordinate terms:	Carbohydrate-Deficient Glycoprotein Syndrome \| Fructose Metabolism, Inborn Errors \| Fucosidosis \| Galactosemias \| Glucosephosphate Dehydrogenase Deficiency \| Glycogen Storage Disease \| Hyperoxaluria, Primary \| Lactose Intolerance \| Mannosidase Deficiency Diseases \| Mucolipidoses \| Mucopolysaccharidoses \| Multiple Carboxylase Deficiency X
URI:	X
Labels and equivalent concepts:	Synnynnäiset pyruvaattiaineenvaihdunnan häiriöt (fi) Synnynnäiset pyruvaattimetabolian häiriöt (fi, replaced) Pyruvaattimetabolian synnynnäiset häiriöt (fi, replaced) Pyruvaattiaineenvaihdunnan synnynnäiset häiriöt (fi, replaced) Pyruvatomsättningsrubbningar, medfödda (sv) X
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