ONKI3 | Medical Subject Headings

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Pyruvate Carboxylase Deficiency Disease

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber 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 ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Pyruvate Metabolism, Inborn Errors ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Pyruvate Carboxylase Deficiency Disease 28 coordinate concepts ∟ Leigh Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease 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 ∟ Pyruvate Carboxylase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Pyruvate Carboxylase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Pyruvate Metabolism, Inborn Errors ∟ Pyruvate Carboxylase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Pyruvate Carboxylase Deficiency Disease Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) 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) Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Pyruvate Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Mitochondrial Diseases > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Pyruvate Carboxylase/deficiency (1974-1988)X
historyNote*:	2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 X
publicMeSHNote*:	2000; see PYRUVATE CARBOXYLASE DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 X
Scope note:	An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) X
activeMeSHYear*:	2007X
dateCreated*:	1988-06-01X
dateEstablished*:	1991-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	EJBX
Type:	Concept X
Coordinate terms:	Leigh Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease \| Carbamoyl-Phosphate Synthase I Deficiency Disease \| Cerebral Amyloid Angiopathy, Familial \| Citrullinemia \| Galactosemias \| Hartnup Disease \| Hepatolenticular Degeneration \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperlysinemias \| Lesch-Nyhan Syndrome \| Lysosomal Storage Diseases, Nervous System \| Maple Syrup Urine Disease \| MELAS Syndrome \| Menkes Kinky Hair Syndrome \| MERRF Syndrome \| Oculocerebrorenal Syndrome \| Ornithine Carbamoyltransferase Deficiency Disease \| Peroxisomal Disorders \| Phenylketonurias \| Tyrosinemias \| Cytochrome-c Oxidase Deficiency \| Friedreich Ataxia \| Mitochondrial Myopathies \| Optic Atrophy, Autosomal Dominant \| Optic Atrophy, Hereditary, Leber X
URI:	X
Labels and equivalent concepts:	Pyruvaattikarboksylaasipuutos (fi) Pyruvaattikarboksylaasin puutos (fi, replaced) Pyruvaattikarboksylaasipuute (fi, replaced) Pyruvaattikarboksylaasin puute (fi, replaced) Type II Ataxia with Lactic Acidosis (en, replaced) Deficiency Disease, Pyruvate Carboxylase (en, replaced) Lactic Acidosis with Ataxia, Type II (en, replaced) Ataxia with Lactic Acidosis, Type II (en, replaced) X
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