ONKI3 | Medical Subject Headings


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias 35 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ 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 \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Galactosemias 35 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ 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 \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias 35 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ 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 \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias 35 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ 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 \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias 35 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ 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 \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Galactosemias 35 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ 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 \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Galactosemias Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Galactosemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Galactosemias Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) 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) Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
historyNote*:	2000(1966) X
publicMeSHNote*:	2000; see GALACTOSEMIA 1966-1999 X
Scope note:	A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Related term:	Galactokinase \| Galactose \| UDPglucose 4-Epimerase \| UDPglucose-Hexose-1-Phosphate Uridylyltransferase \| UTP-Hexose-1-Phosphate Uridylyltransferase X
Type:	Concept X
Coordinate terms:	Carbamoyl-Phosphate Synthase I Deficiency Disease \| Cerebral Amyloid Angiopathy, Familial \| Citrullinemia \| Hartnup Disease \| Hepatolenticular Degeneration \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperlysinemias \| Leigh Disease \| 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 \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease \| Tyrosinemias \| Carbohydrate-Deficient Glycoprotein Syndrome \| Fructose Metabolism, Inborn Errors \| Fucosidosis \| Glucosephosphate Dehydrogenase Deficiency \| Glycogen Storage Disease \| Hyperoxaluria, Primary \| Lactose Intolerance \| Mannosidase Deficiency Diseases \| Mucolipidoses \| Mucopolysaccharidoses \| Multiple Carboxylase Deficiency \| Pyruvate Metabolism, Inborn Errors X
URI:	X
Labels and equivalent concepts:	Galaktosemiat (fi) Galaktoosiverisyys (fi, replaced) Galaktosemia (fi, replaced) Galaktosemier (sv) UTP Hexose-1-Phosphate Uridylyltransferase Deficiency (en, replaced) UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency (en, replaced) UDP-Galactose-4-Epimerase Deficiency Disease (en, replaced) Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase (en, replaced) Deficiency Disease, UDP-Galactose-4-Epimerase (en, replaced) Deficiency Disease, UDPglucose 4-Epimerase (en, replaced) Galactosemia, Classic (en, replaced) Deficiency Disease, Galactokinase (en, replaced) Galactosaemia (la-FI, replaced) X
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