ONKI3 | Medical Subject Headings


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Tyrosinemias 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 \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ 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 ∟ Tyrosinemias 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 \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ 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 ∟ Tyrosinemias 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 \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ 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 ∟ Tyrosinemias 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 \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ 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 ∟ Tyrosinemias 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 \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ 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 ∟ Tyrosinemias 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 \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ 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 ∟ Tyrosinemias Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Tyrosinemias Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Tyrosinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Tyrosinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Tyrosinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Tyrosinemias 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:	note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic X
History note:	Amino Acid Metabolism, Inborn Errors (1967-1999)X
historyNote*:	2000 X
publicMeSHNote*:	2000 X
Scope note:	A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) X
activeMeSHYear*:	2007X
dateCreated*:	1999-11-04X
dateEstablished*:	2000-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	KEVX
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 \| Ornithine Carbamoyltransferase Deficiency Disease \| Phenylketonurias \| 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:	Tyrosinemiat (fi) 4-hydroksifenylipyruvaattidioksigenaasin puute (fi, replaced) Fumaryyliasetoasetaasin puute (fi, replaced) Tyrosiinitransaminaasin puute (fi, replaced) Tyrosinemia (fi, replaced) Tyrosinemier (sv) Tyrosinemias, Hereditary (en, replaced) Tyrosine Transaminase Deficiency Disease (en, replaced) Hypertyrosinemia, Type I (en, replaced) Hereditary Tyrosinemia, Type III (en, replaced) Deficiency Disease, Fumarylacetoacetase (en, replaced) Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase (en, replaced) 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease (en, replaced) Deficiency Disease, Tyrosine Transaminase (en, replaced) Fumarylacetoacetase Deficiency Disease (en, replaced) Hereditary Tyrosinemia, Type II (en, replaced) Hereditary Tyrosinemia, Type I (en, replaced) 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease (en, replaced) Tyrosinaemia (la-FI, replaced) X
Share:	X