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 ∟ Hyperlysinemias 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ 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 ∟ Hyperlysinemias 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ 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 ∟ Hyperlysinemias 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ 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 ∟ Hyperlysinemias 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ 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 ∟ Hyperlysinemias 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ 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 ∟ Hyperlysinemias 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ 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 ∟ Hyperlysinemias Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Hyperlysinemias Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Hyperlysinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Hyperlysinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Hyperlysinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Hyperlysinemias 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
History note:	Amino Acid Metabolism, Inborn Errors (1965-1999) \| Lysine/metabolism (1966-1999)X
historyNote*:	2000 X
publicMeSHNote*:	2000 X
Scope note:	A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) X
activeMeSHYear*:	2007X
dateCreated*:	1999-11-03X
dateEstablished*:	2000-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	KEVX
Related term:	Saccharopine Dehydrogenases X
Type:	Concept X
Coordinate terms:	Albinism \| Alkaptonuria \| Carbamoyl-Phosphate Synthase I Deficiency Disease \| Citrullinemia \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperhomocysteinemia \| Maple Syrup Urine Disease \| Multiple Carboxylase Deficiency \| Ornithine Carbamoyltransferase Deficiency Disease \| 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:	Hyperlysinemiat (fi) Hyperlysinemia (fi, replaced) Hyperlysinemia, Familial (en, replaced) Deficiency Disease, Saccharopine Dehydrogenase (en, replaced) Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase (en, replaced) Deficiency Disease, Alpha-Aminoadipic Semialdehyde (en, replaced) Hyperlysinaemia (la-FI, replaced) X
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