ONKI3 | Medical Subject Headings

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Maple Syrup Urine 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 ∟ Maple Syrup Urine Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ 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 ∟ Maple Syrup Urine Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ 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 ∟ Maple Syrup Urine Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ 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 ∟ Maple Syrup Urine Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ 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 ∟ Maple Syrup Urine Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ 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 ∟ Maple Syrup Urine Disease 27 coordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ 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 ∟ Maple Syrup Urine Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Maple Syrup Urine Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Maple Syrup Urine Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Maple Syrup Urine Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Maple Syrup Urine Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Maple Syrup Urine 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
Scope note:	An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Albinism \| Alkaptonuria \| Carbamoyl-Phosphate Synthase I Deficiency Disease \| Citrullinemia \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperhomocysteinemia \| Hyperlysinemias \| 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:	Vaahterasiirappitauti (fi) Vaahterasiirappivirtsaisuus (fi, replaced) Vaahterasiirappisairaus (fi, replaced) Vaahterasiirappivirtsasairaus (fi, replaced) Vaahterasiirappivirtsatauti (fi, replaced) MSUD (fi, replaced) Lönnsirapssjuka (sv) Leucinos (sv, replaced) Thiamine Responsive Maple Syrup Urine Disease (en, replaced) Maple Syrup Urine Disease, Classic (en, replaced) Classical Maple Syrup Urine Disease (en, replaced) Maple Syrup Urine Disease, Classical (en, replaced) Maple Syrup Urine Disease, Intermediate (en, replaced) MSUD (Maple Syrup Urine Disease) (en, replaced) Maple Syrup Urine Disease, Intermittent (en, replaced) Branched-Chain Ketoaciduria (en, replaced) Morbus urinae syrupi aceris (la-FI, replaced) X
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