ONKI3 | Medical Subject Headings

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Multiple Carboxylase Deficiency

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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 ∟ Multiple Carboxylase Deficiency 25 coordinate concepts 2 subordinate concepts ∟ Biotinidase Deficiency \| ∟ Holocarboxylase Synthetase Deficiency ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ 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 ∟ Multiple Carboxylase Deficiency 25 coordinate concepts 2 subordinate concepts ∟ Biotinidase Deficiency \| ∟ Holocarboxylase Synthetase Deficiency ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency 25 coordinate concepts 2 subordinate concepts ∟ Biotinidase Deficiency \| ∟ Holocarboxylase Synthetase Deficiency ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency 25 coordinate concepts 2 subordinate concepts ∟ Biotinidase Deficiency \| ∟ Holocarboxylase Synthetase Deficiency ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias \| ∟ Carbohydrate-Deficient Glycoprotein Syndrome \| ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Pyruvate Metabolism, Inborn Errors 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 ∟ Multiple Carboxylase Deficiency Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency Amino Acid Metabolism, Inborn Errors > 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) Amino Acid Metabolism, Inborn Errors > 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
Narrower terms:	Biotinidase Deficiency \| Holocarboxylase Synthetase Deficiency X
History note:	specific enzyme (1966-1974) \| specific enzyme/deficiency (1975-1986)X
historyNote*:	87 X
publicMeSHNote*:	87 X
Scope note:	A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. X
activeMeSHYear*:	2007X
dateCreated*:	1986-04-18X
dateEstablished*:	1987-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	VDKX
Related term:	Biotin 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 \| Ornithine Carbamoyltransferase Deficiency Disease \| Phenylketonurias \| Tyrosinemias \| Carbohydrate-Deficient Glycoprotein Syndrome \| Fructose Metabolism, Inborn Errors \| Fucosidosis \| Galactosemias \| Glucosephosphate Dehydrogenase Deficiency \| Glycogen Storage Disease \| Hyperoxaluria, Primary \| Lactose Intolerance \| Mannosidase Deficiency Diseases \| Mucolipidoses \| Mucopolysaccharidoses \| Pyruvate Metabolism, Inborn Errors X
URI:	X
Labels and equivalent concepts:	Multippeli karboksylaasipuutos (fi) Multippeli karboksylaasin puute (fi, replaced) Multippeli karboksylaasin puutos (fi, replaced) Multippeli karboksylaasipuute (fi, replaced) Multipel karboxylasbrist (sv) Deficiency, Multiple Carboxylase (en, replaced) Deficiency, Combined Carboxylase (en, replaced) Carboxylase Deficiency, Multiple (en, replaced) Combined Carboxylase Deficiency (en, replaced) Carboxylase Deficiency, Combined (en, replaced) X
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