 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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Maple Syrup Urine Disease" by people in Profiles.
-
Gold NB, Blumenthal JA, Wessel AE, Stein DR, Scott A, Fox VL, Turner A, Kritzer A, Rajabi F, Peeler K, Tan WH. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316.
-
Jia F, Cui M, Than MT, Han M. Developmental Defects of Caenorhabditis elegans Lacking Branched-chain a-Ketoacid Dehydrogenase Are Mainly Caused by Monomethyl Branched-chain Fatty Acid Deficiency. J Biol Chem. 2016 Feb 05; 291(6):2967-73.
-
Skvorak KJ, Dorko K, Marongiu F, Tahan V, Hansel MC, Gramignoli R, Arning E, Bottiglieri T, Gibson KM, Strom SC. Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice. Mol Genet Metab. 2013 Jun; 109(2):132-8.
-
Skvorak KJ, Dorko K, Marongiu F, Tahan V, Hansel MC, Gramignoli R, Gibson KM, Strom SC. Placental stem cell correction of murine intermediate maple syrup urine disease. Hepatology. 2013 Mar; 57(3):1017-23.
-
Skvorak KJ, Paul HS, Dorko K, Marongiu F, Ellis E, Chace D, Ferguson C, Gibson KM, Homanics GE, Strom SC. Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease. Mol Ther. 2009 Jul; 17(7):1266-73.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|