ONKI3 | Medical Subject Headings

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Ornithine Carbamoyltransferase Deficiency Disease

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Ornithine Carbamoyltransferase Deficiency Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Peroxisomal Disorders \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Peroxisomal Disorders \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Peroxisomal Disorders \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Peroxisomal Disorders \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Ornithine Carbamoyltransferase Deficiency Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Peroxisomal Disorders \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Peroxisomal Disorders \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Ornithine Carbamoyltransferase Deficiency Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Ornithine Carbamoyltransferase Deficiency Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Ornithine Carbamoyltransferase Deficiency Disease Amino Acid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Brain Diseases, Metabolic, Inborn > 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) Amino Acid Metabolism, Inborn Errors > Metabolism, Inborn Errors > 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) X
Annotation:	consider also ORNITHINE CARBAMOYLTRANSFERASE /defic X
History note:	Ornithine Carbamoyltransferase/deficiency (1966-1999)X
historyNote*:	2000 X
publicMeSHNote*:	2000 X
Scope note:	An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as a sex-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) X
activeMeSHYear*:	2007X
dateCreated*:	1999-11-03X
dateEstablished*:	2000-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	KEVX
Related term:	Ornithine Carbamoyltransferase X
Type:	Concept X
Coordinate terms:	Albinism \| Alkaptonuria \| Carbamoyl-Phosphate Synthase I Deficiency Disease \| Citrullinemia \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperhomocysteinemia \| Hyperlysinemias \| Maple Syrup Urine Disease \| Multiple Carboxylase Deficiency \| Phenylketonurias \| Tyrosinemias \| Cerebral Amyloid Angiopathy, Familial \| Galactosemias \| Hartnup Disease \| Hepatolenticular Degeneration \| Leigh Disease \| Lesch-Nyhan Syndrome \| Lysosomal Storage Diseases, Nervous System \| MELAS Syndrome \| Menkes Kinky Hair Syndrome \| MERRF Syndrome \| Oculocerebrorenal Syndrome \| Peroxisomal Disorders \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease X
URI:	X
Labels and equivalent concepts:	Ornitiinitranskarbamylaasin puutos (fi) Ornitiinikarbamoyylitransferaasin puutos (fi, replaced) Ornitiinitranskarbamylaasin puute (fi, replaced) OTC-puute (fi, replaced) OTC-puutos (fi, replaced) Ornitiinikarbamoyylitransferaasin puute (fi, replaced) OCT-puutos (fi, replaced) OCT-puute (fi, replaced) Ornitinkarbamoyltransferasbristsjukdom (sv) Deficiency Disease, Ornithine Transcarbamylase (en, replaced) Ornithine Transcarbamylase Deficiency Disease (en, replaced) Deficiency Disease, Ornithine Carbamoyltransferase (en, replaced) X
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