Maple Syrup Urine Disease
"Maple Syrup Urine Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D008375
|
| MeSH Number(s) |
C10.228.140.163.100.520 C16.320.565.100.608 C16.320.565.189.520 C18.452.132.100.520 C18.452.648.100.608 C18.452.648.189.520
|
| Concept/Terms |
Maple Syrup Urine Disease- Maple Syrup Urine Disease
- BCKD Deficiency
- Keto Acid Decarboxylase Deficiency
- MSUD (Maple Syrup Urine Disease)
- Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency
- Branched Chain alpha Keto Acid Dehydrogenase Deficiency
- Branched-Chain Ketoaciduria
- Branched Chain Ketoaciduria
- Branched-Chain Ketoacidurias
- Ketoaciduria, Branched-Chain
- Ketoacidurias, Branched-Chain
Classic Maple Syrup Urine Disease- Classic Maple Syrup Urine Disease
- Maple Syrup Urine Disease, Classic
- Maple Syrup Urine Disease, Classical
- Classical Maple Syrup Urine Disease
|
Below are MeSH descriptors whose meaning is more general than "Maple Syrup Urine Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Maple Syrup Urine Disease [C10.228.140.163.100.520]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Maple Syrup Urine Disease [C16.320.565.100.608]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Maple Syrup Urine Disease [C16.320.565.189.520]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Maple Syrup Urine Disease [C18.452.132.100.520]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Maple Syrup Urine Disease [C18.452.648.100.608]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Maple Syrup Urine Disease [C18.452.648.189.520]
Below are MeSH descriptors whose meaning is more specific than "Maple Syrup Urine Disease".
This graph shows the total number of publications written about "Maple Syrup Urine Disease" by people in this website by year, and whether "Maple Syrup Urine Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Maple Syrup Urine Disease" by people in Profiles.
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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Sep 15; 23(R1):R1-8.
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The electroencephalogram in neonatal maple syrup urine disease: a case report. Clin EEG Neurosci. 2012 Jan; 43(1):64-7.
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Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr. 2012 Jan; 160(1):116-21.e1.
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Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet. 2011 Feb 15; 20(4):631-40.
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Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab. 2010 Apr; 99(4):333-45.
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The Fourth Workshop on the Assessment of Adequate intake of Dietary Amino Acids: general discussion of sessions 1 and 2. J Nutr. 2005 06; 135(6 Suppl):1576S-9S.
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Cerebral edema in maple syrup urine disease. J Pediatr. 1993 Jan; 122(1):167-8.
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Cerebral edema causing death in children with maple syrup urine disease. J Pediatr. 1991 Jul; 119(1 Pt 1):42-5.
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Thiamine response in maple syrup urine disease. Pediatr Res. 1985 Oct; 19(10):1011-6.
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Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism. Pediatr Res. 1980 Jul; 14(7):854-7.